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Timm Schäfer, Christian Doose, Buntaro Fujita, Marc Utzenrath, Sandrine Egron, Christoph Schmitz, Smita Scholtz, Maximilian Kütting, Kavous Hakim-Meibodi, Jochen Börgermann, Jan Gummert, Ulrich Steinseifer, Stephan Ensminger
AIMS: The aim was to determine the best functional position of a transcatheter heart valve (THV) implanted as a valve-in-valve (ViV) procedure in small rapid deployment valves (RDV) in an in vitro model. METHODS AND RESULTS: A 21mm Perceval™, Enable™ or INTUITY™ RDV was mounted into a pulse duplicator and a 23mm balloon-expandable or a self-expanding THV was deployed (valve-in-valve) in two different positions. Under physiological hydrodynamic conditions, performance of the THV was characterized by mean transvalvular pressure gradient (MPG), effective orifice area (EOA) and regurgitation volume (RV)...
October 18, 2016: EuroIntervention
Martin Hölzer, Verena Krähling, Fabian Amman, Emanuel Barth, Stephan H Bernhart, Victor A O Carmelo, Maximilian Collatz, Gero Doose, Florian Eggenhofer, Jan Ewald, Jörg Fallmann, Lasse M Feldhahn, Markus Fricke, Juliane Gebauer, Andreas J Gruber, Franziska Hufsky, Henrike Indrischek, Sabina Kanton, Jörg Linde, Nelly Mostajo, Roman Ochsenreiter, Konstantin Riege, Lorena Rivarola-Duarte, Abdullah H Sahyoun, Sita J Saunders, Stefan E Seemann, Andrea Tanzer, Bertram Vogel, Stefanie Wehner, Michael T Wolfinger, Rolf Backofen, Jan Gorodkin, Ivo Grosse, Ivo Hofacker, Steve Hoffmann, Christoph Kaleta, Peter F Stadler, Stephan Becker, Manja Marz
The unprecedented outbreak of Ebola in West Africa resulted in over 28,000 cases and 11,000 deaths, underlining the need for a better understanding of the biology of this highly pathogenic virus to develop specific counter strategies. Two filoviruses, the Ebola and Marburg viruses, result in a severe and often fatal infection in humans. However, bats are natural hosts and survive filovirus infections without obvious symptoms. The molecular basis of this striking difference in the response to filovirus infections is not well understood...
October 7, 2016: Scientific Reports
Pablo Mateos-Gil, Sebastian Letschert, Sören Doose, Markus Sauer
Besides its function as a passive cell wall, the plasma membrane (PM) serves as a platform for different physiological processes such as signal transduction and cell adhesion, determining the ability of cells to communicate with the exterior, and form tissues. Therefore, the spatial distribution of PM components, and the molecular mechanisms underlying it, have important implications in various biological fields including cell development, neurobiology, and immunology. The existence of confined compartments in the plasma membrane that vary on many length scales from protein multimers to micrometer-size domains with different protein and lipid composition is today beyond all questions...
2016: Frontiers in Cell and Developmental Biology
Samantha Palmer, Meghan C Towne, Phillip L Pearl, Renee C Pelletier, Casie A Genetti, Jiahai Shi, Alan H Beggs, Pankaj B Agrawal, Catherine A Brownstein
BACKGROUND: Epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy or Doose syndrome, has been recently linked to variants in the SLC6A1 gene. Epilepsy with myoclonic-atonic seizures is often refractory to antiepileptic drugs, and the ketogenic diet is known for treating medically intractable seizures, although the mechanism of action is largely unknown. We report a novel SLC6A1 variant in a patient with epilepsy with myoclonic-atonic seizures, analyze its effects, and suggest a mechanism of action for the ketogenic diet...
July 28, 2016: Pediatric Neurology
Francesca Pittau, Christian M Korff, Douglas R Nordli
AIM: To describe the occurrence of epileptic spasms in epilepsy with myoclonic-atonic seizures (EMAS) or Doose syndrome. METHODS: Case descriptions of patients with EMAS and epileptic spasms. Diagnosis of EMAS was performed according to the following criteria: (1) onset of myoclonic, myoclonic-atonic, or atonic seizures at between 7 months and 6 years of age; (2) normal development before onset of epilepsy; (3) absence of structural cerebral abnormalities on MRI; (4) presence of generalized spike-waves or polyspike-waves on EEG; and (5) exclusion of other myoclonic epilepsies...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza, Luz M Cordero
Doose and Lennox-Gastaut (syndromes) are rare generalized electroclinical affections of early infancy of variable prognosis which manifest with very diverse kinds of seizures. Very frequently, these types of epilepsy become drug resistant and finding reliable treatment results is very difficult. As a result of this, fighting against these syndromes becomes a long term (or endless) event for the little patient, the neurologist and the parents. A lot of Electroencephalographic (EEG) records are so accumulated during the child's life in order to monitor evolution and correlate it with medications...
June 2016: Journal of Integrative Neuroscience
Alberto Grande-Martín, José Manuel Pardal-Fernández, María Carmen Carrascosa-Romero, Carlos De Cabo
Antiepileptic drugs may occasionally increase seizure frequency or eliciting de novo seizure occurrence; the underlying mechanism of these effects is not known. The potential adverse effects of valproic acid in myoclonic astatic epilepsy have been noted by experienced clinicians in various different regions of the world, but this important observation has not been sufficiently reported. We present the case of tonic status epilepticus in an 8-year-old boy with Doose syndrome related to valproic acid. Valproic acid, such as others antiepileptic drugs, is liable to produce paradoxical effects such as the atypical seizures we report...
June 2016: Neuropediatrics
Pinelopi Dragoumi, Fiona Chivers, Megan Brady, Sheila Craft, David Mushati, Gopalakrishnan Venkatachalam, Judith Helen Cross, Krishna B Das
An electroclinical epilepsy syndrome diagnosis enables physicians to predict outcomes as well as select appropriate treatment options. We report a child who presented with reflex myoclonus at the age of 9 months and was initially diagnosed with myoclonic epilepsy in infancy. After 9 years of medically resistant myoclonic seizures, extensive investigations, and emerging learning difficulties, she was referred for video-telemetry to characterize her seizures in an attempt to make a syndromic diagnosis. A three-day video-telemetry assessment was performed to document seizures...
2016: Epilepsy & Behavior Case Reports
Gero Doose, Steve Hoffmann, Ingram Iaccarino
No abstract text is available yet for this article.
February 2, 2016: Proceedings of the National Academy of Sciences of the United States of America
Christian Werner, Martin Pauli, Sören Doose, Andreas Weishaupt, Holger Haselmann, Benedikt Grünewald, Markus Sauer, Manfred Heckmann, Klaus V Toyka, Esther Asan, Claudia Sommer, Christian Geis
Stiff-person syndrome is the prototype of a central nervous system disorder with autoantibodies targeting presynaptic antigens. Patients with paraneoplastic stiff-person syndrome may harbour autoantibodies to the BAR (Bin/Amphiphysin/Rvs) domain protein amphiphysin, which target its SH3 domain. These patients have neurophysiological signs of compromised central inhibition and respond to symptomatic treatment with medication enhancing GABAergic transmission. High frequency neurotransmission as observed in tonic GABAergic interneurons relies on fast exocytosis of neurotransmitters based on compensatory endocytosis...
February 2016: Brain: a Journal of Neurology
Helene Kretzmer, Stephan H Bernhart, Wei Wang, Andrea Haake, Marc A Weniger, Anke K Bergmann, Matthew J Betts, Enrique Carrillo-de-Santa-Pau, Gero Doose, Jana Gutwein, Julia Richter, Volker Hovestadt, Bingding Huang, Daniel Rico, Frank Jühling, Julia Kolarova, Qianhao Lu, Christian Otto, Rabea Wagener, Judith Arnolds, Birgit Burkhardt, Alexander Claviez, Hans G Drexler, Sonja Eberth, Roland Eils, Paul Flicek, Siegfried Haas, Michael Hummel, Dennis Karsch, Hinrik H D Kerstens, Wolfram Klapper, Markus Kreuz, Chris Lawerenz, Dido Lenze, Markus Loeffler, Cristina López, Roderick A F MacLeod, Joost H A Martens, Marta Kulis, José Ignacio Martín-Subero, Peter Möller, Inga Nagel, Simone Picelli, Inga Vater, Marius Rohde, Philip Rosenstiel, Maciej Rosolowski, Robert B Russell, Markus Schilhabel, Matthias Schlesner, Peter F Stadler, Monika Szczepanowski, Lorenz Trümper, Hendrik G Stunnenberg, Ralf Küppers, Ole Ammerpohl, Peter Lichter, Reiner Siebert, Steve Hoffmann, Bernhard Radlwimmer
Although Burkitt lymphomas and follicular lymphomas both have features of germinal center B cells, they are biologically and clinically quite distinct. Here we performed whole-genome bisulfite, genome and transcriptome sequencing in 13 IG-MYC translocation-positive Burkitt lymphoma, nine BCL2 translocation-positive follicular lymphoma and four normal germinal center B cell samples. Comparison of Burkitt and follicular lymphoma samples showed differential methylation of intragenic regions that strongly correlated with expression of associated genes, for example, genes active in germinal center dark-zone and light-zone B cells...
November 2015: Nature Genetics
Gero Doose, Andrea Haake, Stephan H Bernhart, Cristina López, Sujitha Duggimpudi, Franziska Wojciech, Anke K Bergmann, Arndt Borkhardt, Birgit Burkhardt, Alexander Claviez, Lora Dimitrova, Siegfried Haas, Jessica I Hoell, Michael Hummel, Dennis Karsch, Wolfram Klapper, Karsten Kleo, Helene Kretzmer, Markus Kreuz, Ralf Küppers, Chris Lawerenz, Dido Lenze, Markus Loeffler, Luisa Mantovani-Löffler, Peter Möller, German Ott, Julia Richter, Marius Rohde, Philip Rosenstiel, Andreas Rosenwald, Markus Schilhabel, Markus Schneider, Ingrid Scholz, Stephan Stilgenbauer, Hendrik G Stunnenberg, Monika Szczepanowski, Lorenz Trümper, Marc A Weniger, Steve Hoffmann, Reiner Siebert, Ingram Iaccarino
Despite the established role of the transcription factor MYC in cancer, little is known about the impact of a new class of transcriptional regulators, the long noncoding RNAs (lncRNAs), on MYC ability to influence the cellular transcriptome. Here, we have intersected RNA-sequencing data from two MYC-inducible cell lines and a cohort of 91 B-cell lymphomas with or without genetic variants resulting in MYC overexpression. We identified 13 lncRNAs differentially expressed in IG-MYC-positive Burkitt lymphoma and regulated in the same direction by MYC in the model cell lines...
September 22, 2015: Proceedings of the National Academy of Sciences of the United States of America
Ricardo Zavala-Yoé, Ricardo Ramírez-Mendoza, Luz M Cordero
Epilepsy demands a major burden at global levels. Worldwide, about 1% of people suffer epilepsy and 30% of them (0.3%) are anticonvulsants resistant. Among them, some children epilepsies are peculiarly difficult to deal with as Doose syndrome (DS). Doose syndrome is a very complicated type of children cryptogenic refractory epilepsy (CCRE) which is traditionally studied by analysis of complex electrencephalograms (EEG) by neurologists. CCRE are affections which evolve in a course of many years and customarily, questions such as on which year was the kid healthiest (less seizures) and on which region of the brain (channel) the affection has been progressing more negatively are very difficult or even impossible to answer as a result of the quantity of EEG recorded through the patient's life...
2015: SpringerPlus
Katrin Mackenzie, Steffen Bleyl, Frank-Dieter Kopinke, Heidi Doose, Johannes Bruns
In a first pilot-scale field test the use of Carbo-Iron® was successfully demonstrated. Carbo-Iron was developed with the goal to overcome significant shortcomings of nanoscale zero-valent iron (NZVI) for in-situ groundwater remediation. The composite material of colloidal activated carbon and embedded nanoiron structures has been tested for the remediation of a tetrachloroethene (PCE) contaminated field site in Lower Saxony, Germany. The results of the two-step field test confirmed the properties intended by its design and the particle performance achieved in the laboratory experiments...
September 1, 2016: Science of the Total Environment
Michael Doose, Marc Ziegenbein, Olaf Hoos, Dominik Reim, Wojciech Stengert, Niklas Hoffer, Charlotte Vogel, Yvonne Ziert, Marcel Sieberer
OBJECTIVE: The purpose of the study was to determine the therapeutic effect of physical exercise for patients with unipolar depression. Participants took part in an 8-week walking/running aerobic exercise program at a local sports club. METHODS: Forty-six outpatients aged 18-65 years and diagnosed with mild to severe depression (ICD-10 criteria) were randomly assigned to an intervention group or wait list. Treatment as usual was continued. The Hamilton Rating Scale for Depression (HRSD-17) served as the main outcome measure...
2015: International Journal of Psychiatry in Clinical Practice
Anne Burgert, Sebastian Letschert, Sören Doose, Markus Sauer
Single-molecule localization microscopy provides subdiffraction resolution images with virtually molecular resolution. Through the availability of commercial instruments and open-source reconstruction software, achieving super resolution is now public domain. However, despite its conceptual simplicity, localization microscopy remains prone to user errors. Using direct stochastic optical reconstruction microscopy, we investigate the impact of irradiation intensity, label density and photoswitching behavior on the distribution of membrane proteins in reconstructed super-resolution images...
August 2015: Histochemistry and Cell Biology
Sachin Suresh Babu, Chindripu Sudhir Peter, Sobhana Mogadati, Phebe Miriam Joseph, Nishant Reddy, Priya Gupta
Doose syndrome, or epilepsy with myoclonic-atonic seizures, is a rare electroclinical syndrome. It is important to distinguish it from related epilepsy syndromes such as Lennox Gestaut syndrome and Dravet syndrome. We report the occurrence of this disorder in three siblings born of a non-consanguineous marriage.
November 2014: National Medical Journal of India
Craig A Press, Kelly G Knupp, Kevin E Chapman
OBJECTIVE: Oral cannabis extracts (OCEs) have been used in the treatment of epilepsy; however, no studies demonstrate clear efficacy. We report on a cohort of pediatric patients with epilepsy who were given OCE and followed in a single tertiary epilepsy center. METHODS: A retrospective chart review of children and adolescents who were given OCE for treatment of their epilepsy was performed. RESULTS: Seventy-five patients were identified of which 57% reported any improvement in seizure control and 33% reported a >50% reduction in seizures (responders)...
April 2015: Epilepsy & Behavior: E&B
Sophie Doose-Grünefeld, Simon B Eickhoff, Veronika I Müller
Alterations in the processing of emotional stimuli (e.g., facial expressions, prosody, music) have repeatedly been reported in patients with major depression. Such impairments may result from the likewise prevalent executive deficits in these patients. However, studies investigating this relationship are rare. Moreover, most studies to date have only assessed impairments in unimodal emotional processing, whereas in real life, emotions are primarily conveyed through more than just one sensory channel. The current study therefore aimed at investigating multi-modal emotional processing in patients with depression and to assess the relationship between emotional and neurocognitive impairments...
2015: Frontiers in Integrative Neuroscience
Sebastian Letschert, Antonia Göhler, Christian Franke, Nadja Bertleff-Zieschang, Elisabeth Memmel, Sören Doose, Jürgen Seibel, Markus Sauer
Much of the physiology of cells is controlled by the spatial organization of the plasma membrane and the glycosylation patterns of its components, however, studying the distribution, size, and composition of these components remains challenging. A bioorthogonal chemical reporter strategy was used for the efficient and specific labeling of membrane-associated glycoconjugates with modified monosaccharide precursors and organic fluorophores. Super-resolution fluorescence imaging was used to visualize plasma membrane glycans with single-molecule sensitivity...
October 6, 2014: Angewandte Chemie
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