TY - JOUR A1 - Heinrich, T. A1 - Nanda, I. A1 - Rehn, M. A1 - Zollner, U. A1 - Frieauff, E. A1 - Wirbelauer, J. A1 - Grimm, T. A1 - Schmid, M. T1 - Live-Born Trisomy 22: Patient Report and Review JF - Molecular Syndromology N2 - Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond. KW - chromosomal abnormality KW - live-born KW - non-mosaic KW - trisomy 22 Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196535 SN - 1661-8769 SN - 1661-8777 N1 - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. VL - 3 IS - 6 ER - TY - JOUR A1 - Kühn, Heike A1 - Schön, Franz A1 - Edelmann, Karola A1 - Brill, Stefan A1 - Müller, Joachim T1 - The Development of Lateralization Abilities in Children with Bilateral Cochlear Implants JF - ORL N2 - Objectives: The purpose of this study was to investigate the development of lateralization skills in children who received bilateral cochlear implants (CIs) in sequential operations. Methods: The lateralization skills of 9 children with a mean age of 4.1 years at the first surgery and 5.5 years at the second surgery were assessed at 3 time intervals. Children were assessed with a 3-loudspeaker setup (front, left and right) at 0.9 years (interval I) and 1.6 years (interval II) after the second implantation, and after 5.3 years of bilateral implant use (interval III) with a 9-loudspeaker setup in the frontal horizontal plane between -90° and 90° azimuth. Results: With bilateral implants, a significant decrease in lateralization error was noted between test interval I (45.0°) and II (23.3°), with a subsequent significant decrease at test interval III (4.7°). Unilateral performance with the CI did not improve significantly between the first 2 intervals; however, there was a bias of responses towards the unilateral side by test interval III. Conclusions: The lateralization abilities of children with bilateral CIs develop in a relatively short period of time (1-2 years) after the second implant. Children appear to be able to acquire binaural skills after bilateral cochlear implantation. KW - localization KW - bilateral cochlear implant KW - children KW - MED-EL cochlear implant KW - lateralization Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196375 SN - 0301-1569 SN - 1423-0275 N1 - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. VL - 75 IS - 2 ER - TY - JOUR A1 - Matthies, Cordula A1 - Brill, Stefan A1 - Kaga, Kimitaka A1 - Morita, Akio A1 - Kumakawa, Kozo A1 - Skarzynski, Henryk A1 - Claassen, Andre A1 - Hui, Yau A1 - Chiong, Charlotte A1 - Müller, Joachim A1 - Behr, Robert T1 - Auditory Brainstem Implantation Improves Speech Recognition in Neurofibromatosis Type II Patients JF - ORL N2 - This prospective study aimed to determine speech understanding in neurofibromatosis type II (NF2) patients following implantation of a MED-EL COMBI 40+ auditory brainstem implant (ABI). Patients (n = 32) were enrolled postsurgically. Nonauditory side effects were evaluated at fitting and audiological performance was determined using the Sound Effects Recognition Test (SERT), Monosyllable-Trochee-Polysyllable (MTP) test and open-set sentence tests. Subjective benefits were determined by questionnaire. ABI activation was documented in 27 patients, 2 patients were too ill for testing and 3 patients were without any auditory perception. SERT and MTP outcomes under auditory-only conditions improved significantly between first fitting and 12-month follow-up. Open-set sentence recognition improved from 5% at first fitting to 37% after 12 months. The number of active electrodes had no significant effect on performance. All questionnaire respondents were ‘satisfied' to ‘very satisfied' with their ABI. An ABI is an effective treatment option in NF2 patients with the potential to provide open-set speech recognition and subjective benefits. To our knowledge, the data presented herein is exceptional in terms of the open-set speech perception achieved in NF2 patients. KW - acoustic neuroma KW - auditory brainstem implant KW - nonauditory side effects KW - open-set sentence recognition KW - subjective benefits KW - vestibular schwannoma Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196383 SN - 0301-1569 SN - 1423-0275 N1 - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. VL - 75 IS - 5 ER - TY - JOUR A1 - de Zeeuw, Dick A1 - Akizawa, Tadao A1 - Agarwal, Rajiv A1 - Audhya, Paul A1 - Bakris, George L. A1 - Chin, Melanie A1 - Krauth, Melissa A1 - Lambers Heerspink, Hiddo J. A1 - Meyer, Colin J. A1 - McMurray, John J. A1 - Parving, Hans-Henrik A1 - Pergola, Pablo E. A1 - Remuzzi, Giuseppe A1 - Toto, Robert D. A1 - Vaziri, Nosratola D. A1 - Wanner, Christoph A1 - Warnock, David G. A1 - Wittes, Janet A1 - Chertow, Glenn M. T1 - Rationale and Trial Design of Bardoxolone Methyl Evaluation in Patients with Chronic Kidney Disease and Type 2 Diabetes: The Occurrence of Renal Events (BEACON) JF - American Journal of Nephrology N2 - Background: Chronic kidney disease (CKD) associated with type 2 diabetes mellitus constitutes a global epidemic complicated by considerable renal and cardiovascular morbidity and mortality, despite the provision of inhibitors of the renin-angiotensin-aldosterone system (RAAS). Bardoxolone methyl, a synthetic triterpenoid that reduces oxidative stress and inflammation through Nrf2 activation and inhibition of NF-κB was previously shown to increase estimated glomerular filtration rate (eGFR) in patients with CKD associated with type 2 diabetes mellitus. To date, no antioxidant or anti-inflammatory therapy has proved successful at slowing the progression of CKD. Methods: Herein, we describe the design of Bardoxolone Methyl Evaluation in Patients with Chronic Kidney Disease and Type 2 Diabetes: the Occurrence of Renal Events (BEACON) trial, a multinational, multicenter, double-blind, randomized, placebo-controlled Phase 3 trial designed to determine whether long-term administration of bardoxolone methyl (on a background of standard therapy, including RAAS inhibitors) safely reduces renal and cardiac morbidity and mortality. Results: The primary composite endpoint is time-to-first occurrence of either end-stage renal disease or cardiovascular death. Secondary endpoints include the change in eGFR and time to occurrence of cardiovascular events. Conclusion: BEACON will be the first event-driven trial to evaluate the effect of an oral antioxidant and anti-inflammatory drug in advanced CKD. KW - clinical trial KW - diabetes mellitus KW - glomerular filtration rate KW - trial design KW - bardoxolone methyl KW - Nrf2 KW - end-stage renal disease KW - cardiovascular death KW - chronic kidney disease Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196832 SN - 0250-8095 SN - 1421-9670 N1 - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. VL - 37 IS - 3 ER - TY - JOUR A1 - Pfister, Roland A1 - Schwarz, Katharina A. A1 - Janczyk, Markus A1 - Dale, Rick A1 - Freeman, Jonathan B. T1 - Good things peak in pairs: a note on the bimodality coefficient JF - Frontiers in Psychology N2 - A commentary on Assessing bimodality to detect the presence of a dual cognitive process by Freeman, J. B., and Dale, R. (2013). Behav. Res. Methods 45, 83–97. doi: 10.3758/s13428-012-0225-x KW - distribution analysis KW - bimodality Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-190413 SN - 1664-1078 VL - 4 ER - TY - JOUR A1 - Foerster, Anna A1 - Pfister, Roland A1 - Schmidts, Constantin A1 - Dignath, David A1 - Kunde, Wilfried T1 - Honesty saves time (and justifications) JF - Frontiers in Psychology N2 - A commentary on Honesty requires time (and lack of justifications) by Shalvi, S., Eldar, O., and Bereby-Meyer, Y. (2012). Psychol. Sci. 23, 1264–1270. doi: 10.1177/0956797612443835 KW - honesty Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-190451 SN - 1664-1078 VL - 4 ER - TY - JOUR A1 - Meule, Adrian A1 - Vögele, Claus T1 - The psychology of eating JF - Frontiers in Psychology N2 - No abstract available. Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-190460 SN - 1664-1078 VL - 4 ER - TY - JOUR A1 - Meule, Adrian T1 - Impulsivity and overeating: a closer look at the subscales of the Barratt Impulsiveness Scale JF - Frontiers in Psychology N2 - No abstract available. KW - Impulsivity KW - Overeating Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-190497 SN - 1664-1078 VL - 4 ER - TY - JOUR A1 - Hurtienne, Jörn T1 - Inter-coder reliability of categorising force-dynamic events in human-technology interaction N2 - Two studies are reported that investigate how readily accessible and applicable ten force-dynamic categories are to novices in describing short episodes of human-technology interaction (Study 1) and that establish a measure of inter-coder reliability when re-classifying these episodes into force-dynamic categories (Study 2). The results of the first study show that people can easily and confidently relate their experiences with technology to the definitions of force-dynamic events (e.g. “The driver released the handbrake” as an example of restraint removal). The results of the second study show moderate agreement between four expert coders across all ten force-dynamic categories (Cohen’s kappa = .59) when re-classifying these episodes. Agreement values for single force-dynamic categories ranged between ‘fair’ and ‘almost perfect’, i.e. between kappa = .30 and .95. Agreement with the originally intended classifications of study 1 was higher than the pure inter-coder reliabilities. Single coders achieved an average kappa of .71, indicating substantial agreement. Using more than one coder increased kappas to almost perfect: up to .87 for four coders. A qualitative analysis of the predicted versus the observed number of category confusions revealed that about half of the category disagreement could be predicted from strong overlaps in the definitions of force-dynamic categories. From the quantitative and qualitative results, guidelines are derived to aid the better training of coders in order to increase inter-coder reliability. KW - inter-coder reliability KW - force dynamics KW - image schemas KW - humantechnology interaction Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-194127 SN - 2197-2796 SN - 2197-2788 N1 - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively. VL - 1 IS - 1 ER - TY - JOUR A1 - Weber, Christoph A1 - Gräf, Stephan T1 - Eine halb so schlimme Täuschung JF - JURA - Juristische Ausbildung N2 - Kein Abstract verfügbar. KW - Examensklausur Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-195484 SN - 1612-7021 SN - 0170-1452 N1 - Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. VL - 36 IS - 1 ER - TY - JOUR A1 - Kiesler, Reinhard T1 - Pour une typologie des phrases complexes JF - Zeitschrift für romanische Philologie N2 - AbstractUne tradition grammaticale largement répandue distingue trois types de relations entre propositions, donc trois types de phrases complexes: les propositions juxtaposées, les propositions coordonnées et les phrases hypotaxiques. Riegel et al. (2009) ajoutent en outre les phrases avec incise ou incidente comme quatrième type. Les grammaires et traités décrivent les différentes sortes de coordination (copulative, disjonctive, adversative, causale et consécutive) et de subordination (complétive, relative et circonstancielle). Pourtant, jusqu’à présent il n’existe pas, à ce qu’il semble, de description plus détaillée, ni des divers degrés de l’hypotaxe et de la parataxe d’une part, ni des différentes combinaisons de structures hypotaxiques et parataxiques d’autre part. Le but de cet article est donc de proposer une typologie plus complète des phrases complexes sur la base d’un petit corpus de référence. Cette typologie distinguera, d’un côté, divers degrés de phrases parataxiques homogènes et de phrases parataxiques hétérogènes et, de l’autre côté, des phrases hypotaxiques simples et des phrases hypotaxiques multiples. KW - parataxe KW - hypotaxe KW - phrase complexe KW - relations entre propositions Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-195562 SN - 1865-9063 SN - 0049-8661 N1 - Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. VL - 129 IS - 3 SP - 608 EP - 628 ER - TY - JOUR A1 - Gedalin, Michael A1 - Dröge, Wolfgang T1 - Ion dynamics in quasi-perpendicular collisionless interplanetary shocks: a case study JF - Frontiers in Physics N2 - Interplanetary shocks are believed to play an important role in the acceleration of charged particles in the heliosphere. While the acceleration to high energies proceeds via the diffusive mechanism at the scales exceeding by far the shock width, the initial stage (injection) should occur at the shock itself. Numerical tracing of ions is done in a model quasi-perpendicular shock front with a typical interplanetary shock parameters (Mach number, upstream ion temperature). The analysis of the distribution of the transmitted solar wind is used to adjust the cross-shock potential which is not directly measured. It is found that, for typical upstream ion temperatures, acceleration of the ions from the tail of the solar wind distribution is unlikely. Pickup ions with a shell distribution are found to be effectively energized and may be injected into further diffusive acceleration regime. Pre-accelerated ions are efficiently upscaled in energies. A part of these ions is returned to the upstream region where they can further be diffusively accelerated. KW - collisionless shocks KW - particle acceleration KW - non-linear waves KW - ion dynamics KW - heliospheric shocks Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-189407 SN - 2296-424X VL - 1 ER - TY - JOUR A1 - Nejad, B. Chokoufe A1 - Lang, J.-N. Lang A1 - Hahn, T. A1 - Mirabella, E. T1 - FormCalc 8: Better Algebra and Vectorization JF - Acta Physica Polonica B N2 - We present Version 8 of the Feynman-diagram calculator FormCalc. New features include, in particular, significantly improved algebraic simplification as well as vectorization of the generated code. The Cuba Library, used in FormCalc, features checkpointing to disk for all integration algorithms. KW - FormCalc8 Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128618 VL - 44 IS - 11 ER - TY - JOUR A1 - Wobser, Marion A1 - Siedel, Claudia A1 - Kneitz, Hermann A1 - Bröcker, Eva-Bettina A1 - Goebeler, Mathias A1 - Houben, Roland A1 - Geissinger, Eva T1 - Microvessel Density and Expression of Vascular Endothelial Growth Factor and its Receptors in Different Subtypes of Primary Cutaneous B-cell Lymphoma JF - Acta Dermato-Venereologica N2 - A proangiogenic micromilieu is associated with a worse prognosis in systemic lymphoma. Hence, targeting the tumour microenvironment and its vasculature has evolved as a promising novel treatment strategy. The role of tumour neoangiogenesis in cutaneous B-cell lymphoma, however, has not yet been elucidated. Therefore, we examined the expression of vascular endothelial growth factor (VEGF) and its receptors VEGFR-1 and VEGFR-2, as well as microvessel density by immunohistochemistry in paraffin-embedded specimens of different subtypes of primary cutaneous B-cell lymphomas, systemic diffuse large B-cell lymphoma, and cutaneous B-cell pseudolymphoma. Primary cutaneous large B-cell lymphoma (PCLBCL) were characterized by significantly higher intratumoral expression levels of VEGF and its receptors in comparison with the indolent lymphoma subtypes. Moreover, PCLBCL exhibited significantly higher intratumoral microvessel counts. Our study provides evidence that the most aggressive subtype of cutaneous B-cell lymphoma, PCLBCL, is characterized by a proangiogenic micromilieu. KW - microvessel density KW - vascular endothelial growth KW - B-cell lymphoma KW - subtypes Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128608 VL - 93 IS - 6 ER - TY - JOUR A1 - Poppe, Lidia M. A1 - Bröcker, Eva-Bettina A1 - Trautmann, Axel T1 - The One-nail Brown Band: Macro- and Micro-morphology JF - Acta Dermato-Venereologica N2 - No abstract available. KW - brown band KW - macro-morphology KW - micro-morphology Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128566 VL - 93 IS - 4 ER - TY - JOUR A1 - Schneider, Peter T1 - Paradigm Shift JF - Deutsches Ärzteblatt International N2 - No abstract available. KW - osteoporosis Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128858 VL - 110 IS - 22 ER - TY - JOUR A1 - Müllenbach, Ralf Michael A1 - Roewer, Norbert A1 - Kranke, Peter T1 - Quality Assurance Would Be Welcome JF - Deutsches Ärzteblatt international N2 - No abstract available. KW - quality assurance KW - medicine Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128844 VL - 110 IS - 27-28 ER - TY - JOUR A1 - van Oorschot, Birgitt A1 - Rades, Dirk A1 - Lordick, Florian T1 - Connections Are Clearly More Complex JF - Deutsches Ärzteblatt international N2 - No abstract available. KW - palliative medicine Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-128837 VL - 110 IS - 44 ER - TY - JOUR A1 - Kress, Michaela A1 - Hüttenhofer, Alexander A1 - Landry, Marc A1 - Kuner, Rohini A1 - Favereaux, Alexandre A1 - Greenberg, David A1 - Bednarik, Josef A1 - Heppenstall, Paul A1 - Kronenberg, Florian A1 - Malcangio, Marzia A1 - Rittner, Heike A1 - Üçeyler, Nurcan A1 - Trajanoski, Zlatko A1 - Mouritzen, Peter A1 - Birklein, Frank A1 - Sommer, Claudia A1 - Soreq, Hermona T1 - microRNAs in nociceptive circuits as predictors of future clinical applications JF - Frontiers in Molecular Neuroscience N2 - Neuro-immune alterations in the peripheral and central nervous system play a role in the pathophysiology of chronic pain, and non-coding RNAs – and microRNAs (miRNAs) in particular – regulate both immune and neuronal processes. Specifically, miRNAs control macromolecular complexes in neurons, glia and immune cells and regulate signals used for neuro-immune communication in the pain pathway. Therefore, miRNAs may be hypothesized as critically important master switches modulating chronic pain. In particular, understanding the concerted function of miRNA in the regulation of nociception and endogenous analgesia and defining the importance of miRNAs in the circuitries and cognitive, emotional and behavioral components involved in pain is expected to shed new light on the enigmatic pathophysiology of neuropathic pain, migraine and complex regional pain syndrome. Specific miRNAs may evolve as new druggable molecular targets for pain prevention and relief. Furthermore, predisposing miRNA expression patterns and inter-individual variations and polymorphisms in miRNAs and/or their binding sites may serve as biomarkers for pain and help to predict individual risks for certain types of pain and responsiveness to analgesic drugs. miRNA-based diagnostics are expected to develop into hands-on tools that allow better patient stratification, improved mechanism-based treatment, and targeted prevention strategies for high risk individuals. KW - chronic pain KW - biomarker KW - polymorphism KW - miRNA-based diagnostics KW - miRNA expression patterns KW - miRNA polymorphisms KW - antagomir KW - miRNA-based analgesic Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-154597 VL - 6 IS - 33 ER - TY - JOUR A1 - Buder, Kristina A1 - Gesierich, Anja A1 - Gelbrich, Götz A1 - Goebeler, Matthias T1 - Systemic treatment of metastatic uveal melanoma: review of literature and future perspectives JF - Cancer Medicine N2 - Up to 50% of patients with uveal melanoma develop metastatic disease with poor prognosis. Regional, mainly liver-directed, therapies may induce limited tumor responses but do not improve overall survival. Response rates of metastatic uveal melanoma (MUM) to systemic chemotherapy are poor. Insights into the molecular biology of MUM recently led to investigation of new drugs. In this study, to compare response rates of systemic treatment for MUM we searched Pubmed/Web of Knowledge databases and ASCO website (1980–2013) for “metastatic/uveal/melanoma” and “melanoma/eye.” Forty studies (one case series, three phase I, five pilot, 22 nonrandomized, and two randomized phase II, one randomized phase III study, data of three expanded access programs, three retrospective studies) with 841 evaluable patients were included in the numeric outcome analysis. Complete or partial remissions were observed in 39/841 patients (overall response rate [ORR] 4.6%; 95% confidence intervals [CI] 3.3–6.3%), no responses were observed in 22/40 studies. Progression-free survival ranged from 1.8 to 7.2, median overall survival from 5.2 to 19.0 months as reported in 21/40 and 26/40 studies, respectively. Best responses were seen for chemoimmunotherapy (ORR 10.3%; 95% CI 4.8–18.7%) though mainly in first-line patients. Immunotherapy with ipilimumab, antiangiogenetic approaches, and kinase inhibitors have not yet proven to be superior to chemotherapy. MEK inhibitors are currently investigated in a phase II trial with promising preliminary data. Despite new insights into genetic and molecular background of MUM, satisfying systemic treatment approaches are currently lacking. Study results of innovative treatment strategies are urgently awaited. KW - Clinical trials KW - drug therapy KW - metastatic KW - review KW - uveal melanoma Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-97175 VL - 2 IS - 5 ER -