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Michael Vogt

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https://www.readbyqxmd.com/read/28859103/myt1l-mutations-cause-intellectual-disability-and-variable-obesity-by-dysregulating-gene-expression-and-development-of-the-neuroendocrine-hypothalamus
#1
Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Eric Glasgow, Alisdair McNeill
Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deletion at 2p25.3. To examine this we sought MYT1L SNVs in exome sequencing data from 4, 296 parent-child trios. Further variants were identified through a genematcher-facilitated collaboration...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28775126/furosemide-fludrocortisone-test-and-clinical-parameters-to-diagnose-incomplete-distal-renal-tubular-acidosis-in-kidney-stone-formers
#2
Nasser A Dhayat, Michael W Gradwell, Ganesh Pathare, Manuel Anderegg, Lisa Schneider, David Luethi, Cedric Mattmann, Orson W Moe, Bruno Vogt, Daniel G Fuster
BACKGROUND AND OBJECTIVES: Incomplete distal renal tubular acidosis is a well known cause of calcareous nephrolithiasis but the prevalence is unknown, mostly due to lack of accepted diagnostic tests and criteria. The ammonium chloride test is considered as gold standard for the diagnosis of incomplete distal renal tubular acidosis, but the furosemide/fludrocortisone test was recently proposed as an alternative. Because of the lack of rigorous comparative studies, the validity of the furosemide/fludrocortisone test in stone formers remains unknown...
September 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28708549/effects-of-image-quality-on-the-fundamental-limits-of-image-registration-accuracy
#3
Michael D Ketcha, Tharindu De Silva, Runze Han, Ali Uneri, Joseph Goerres, Matthew Jacobson, Sebastian Vogt, Gerhard Kleinszig, Jeffrey H Siewerdsen
For image-guided procedures, the imaging task is often tied to the registration of intraoperative and preoperative images to a common coordinate system. While the accuracy of this registration is a vital factor in system performance, there is relatively little work that relates registration accuracy to image quality factors such as dose, noise, and spatial resolution. To create a theoretical model for such a relationship, we present a Fisher information approach to analyze registration performance in explicit dependence on the underlying image quality factors of image noise, spatial resolution, and signal power spectrum...
July 11, 2017: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/28652999/management-of-colorectal-cancer-with-synchronous-liver-metastases-impact-of-multidisciplinary-case-conference-review
#4
Kerollos N Wanis, Karen Pineda-Solis, Mauro E Tun-Abraham, Jake Yeoman, Stephen Welch, Kelly Vogt, Julie Ann M Van Koughnett, Michael Ott, Roberto Hernandez-Alejandro
BACKGROUND: While no evidence exists to support mandatory multidisciplinary case conference (MCC) review for patients with synchronous colorectal cancer and liver metastases, this unique population may benefit greatly from multidisciplinary discussion. METHODS: We retrospectively identified patients who underwent liver resection with curative intent for colorectal liver metastases (CRLM) at a tertiary center between January 2008 and June 2015. The characteristics of patients discussed at a weekly regional MCC were examined, and the effect of MCC review on treatment approach was assessed...
June 2017: Hepatobiliary Surgery and Nutrition
https://www.readbyqxmd.com/read/28605781/everolimus-with-cyclosporine-withdrawal-or-low-exposure-cyclosporine-in-kidney-transplantation-from-month-3-a-multicentre-randomized-trial
#5
Klemens Budde, Martin Zeier, Oliver Witzke, Wolfgang Arns, Frank Lehner, Markus Guba, Johannes Jacobi, Volker Kliem, Petra Reinke, Ingeborg A Hauser, Bruno Vogt, Rolf Stahl, Thomas Rath, Michael Duerr, Eva-Maria Paulus, Christoph May, Martina Porstner, Claudia Sommerer
Background.: Randomized trials have shown that early adoption of everolimus-based immunosuppressive regimens without a calcineurin inhibitor (CNI) improves long-term kidney graft function, but the optimal strategy for CNI minimization remains uncertain. Methods.: In a prospective, randomized, multicentre, 12-month trial, 499 de novo kidney transplant patients were randomized at Month 3 to (i) remain on standard CNI (cyclosporine) therapy with mycophenolic acid, (ii) convert to everolimus with mycophenolic acid or (iii) start everolimus with reduced CNI and no mycophenolic acid (clinical trials registry: ClinicalTrials...
June 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28532147/development-of-a-bacterial-biosensor-for-rapid-screening-of-yeast-p-coumaric-acid-production
#6
Solvej Siedler, Narendar K Khatri, Andrea Zsohár, Inge Kjærbølling, Michael Vogt, Petter Hammar, Christian F Nielsen, Jan Marienhagen, Morten O A Sommer, Haakan N Joensson
Transcription factor-based biosensors are used to identify producer strains, a critical bottleneck in cell factory engineering. Here, we address two challenges with this methodology: transplantation of heterologous transcriptional regulators into new hosts to generate functional biosensors and biosensing of the extracellular product concentration that accurately reflects the effective cell factory production capacity. We describe the effects of different translation initiation rates on the dynamic range of a p-coumaric acid biosensor based on the Bacillus subtilis transcriptional repressor PadR by varying its ribosomal binding site...
June 21, 2017: ACS Synthetic Biology
https://www.readbyqxmd.com/read/28515305/cell-cycle-dependent-expression-of-adeno-associated-virus-2-aav2-rep-in-coinfections-with-herpes-simplex-virus-1-hsv-1-gives-rise-to-a-mosaic-of-cells-replicating-either-aav2-or-hsv-1
#7
Francesca D Franzoso, Michael Seyffert, Rebecca Vogel, Artur Yakimovich, Bruna de Andrade Pereira, Anita F Meier, Sereina O Sutter, Kurt Tobler, Bernd Vogt, Urs F Greber, Hildegard Büning, Mathias Ackermann, Cornel Fraefel
Adeno-associated virus 2 (AAV2) depends on the simultaneous presence of a helper virus such as herpes simplex virus 1 (HSV-1) for productive replication. At the same time, AAV2 efficiently blocks the replication of HSV-1, which would eventually limit its own replication by diminishing the helper virus reservoir. This discrepancy begs the question of how AAV2 and HSV-1 can coexist in a cell population. Here we show that in coinfected cultures, AAV2 DNA replication takes place almost exclusively in S/G2-phase cells, while HSV-1 DNA replication is restricted to G1 phase...
August 1, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28507055/adhesion-and-friction-of-the-smooth-attachment-system-of-the-cockroach-gromphadorhina-portentosa-and-the-influence-of-the-application-of-fluid-adhesives
#8
Oliver Betz, Melina Frenzel, Michael Steiner, Martin Vogt, Malte Kleemeier, Andreas Hartwig, Benjamin Sampalla, Frank Rupp, Moritz Boley, Christian Schmitt
Two different measurement techniques were applied to study the attachment of the smooth foot pads of the Madagascar hissing cockroach Gromphadorhina portentosa The attachment of the non-manipulated adhesive organs was compared with that of manipulated ones (depletion or substitution by artificial secretions). From measurements of the friction on a centrifuge, it can be concluded that on nanorough surfaces, the insect appears to benefit from employing emulsions instead of pure oils to avoid excessive friction...
May 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28492183/evaluation-of-formula-see-text-enrichment-values-obtained-with-an-oral-breath-test-under-conditions-of-impaired-gastric-functioning
#9
J A Vogt, U Wachter, P Radermacher, M Georgieff, D König, W Fabinski, E Barth
Gastric emptying can be assessed by an oral administration of a (13)C labeled substrate and its response in the expiratory release of the oxidation product [Formula: see text]. Impaired gut function, reflected, for example, in an intolerance against enteral nutrition may delay or discontinue gastric emptying, potentially leading to multiple peaks in the time profile of expiration. The resulting profile cannot be analyzed by the usual data evaluation that is based on a 'beta exponential' (BEX) function. We developed a new approach that better reflects the underlying physiology...
June 12, 2017: Journal of Breath Research
https://www.readbyqxmd.com/read/28472012/hyperoxia-or-therapeutic-hypothermia-during-resuscitation-from-non-lethal-hemorrhagic-shock-in-swine
#10
Benedikt L Nußbaum, Tatjana Stenzel, Tamara Merz, Angelika Scheuerle, Oscar McCook, Ulrich Wachter, Josef A Vogt, José Matallo, Holger Gässler, Michael Gröger, Martin Matejovic, Enrico Calzia, Lorenz Lampl, Michael Georgieff, Peter Möller, Pierre Asfar, Peter Radermacher, Sebastian Hafner
We previously demonstrated beneficial effects of 22 h of hyperoxia following near-lethal porcine hemorrhagic shock, whereas therapeutic hypothermia was detrimental. Therefore, we investigated whether shorter exposure to hyperoxia (12 h) would still improve organ function, and whether 12 h of hypothermia with subsequent rewarming could avoid deleterious effects after less severe hemorrhagic shock.Twenty-seven anesthetized and surgically instrumented pigs underwent 3 hours of hemorrhagic shock by removal of 30% of the blood volume and titration of the mean arterial blood pressure (MAP) to 40mmHg...
May 2, 2017: Shock
https://www.readbyqxmd.com/read/28434997/multi-photon-microscopy-in-cardiovascular-research
#11
REVIEW
Zhuojun Wu, Timo Rademakers, Fabian Kiessling, Michael Vogt, Erik Westein, Christian Weber, Remco Ta Megens, Marc van Zandvoort
Multiphoton laser scanning microscopy has proven profound value for ex vivo 3D histology and in vivo imaging of motionless tissue. The development of triggering systems and fast imaging methods, combined with advanced preparation procedures solved the challenging task of intravital imaging of the fast pulsating heart and major arteries in animals and further increased the popularity of intravital multiphoton imaging in cardiovascular research. This review article will highlight the potential of multiphoton microscopy for the visualization and characterization of dynamical and structural processes involved in cardiac and vascular diseases, both in an ex vivo and an intravital animal setting...
April 18, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28413018/plaa-mutations-cause-a-lethal-infantile-epileptic-encephalopathy-by-disrupting-ubiquitin-mediated-endolysosomal-degradation-of-synaptic-proteins
#12
Emma A Hall, Michael S Nahorski, Lyndsay M Murray, Ranad Shaheen, Emma Perkins, Kosala N Dissanayake, Yosua Kristaryanto, Ross A Jones, Julie Vogt, Manon Rivagorda, Mark T Handley, Girish R Mali, Tooba Quidwai, Dinesh C Soares, Margaret A Keighren, Lisa McKie, Richard L Mort, Noor Gammoh, Amaya Garcia-Munoz, Tracey Davey, Matthieu Vermeren, Diana Walsh, Peter Budd, Irene A Aligianis, Eissa Faqeih, Alan J Quigley, Ian J Jackson, Yogesh Kulathu, Mandy Jackson, Richard R Ribchester, Alex von Kriegsheim, Fowzan S Alkuraya, C Geoffrey Woods, Eamonn R Maher, Pleasantine Mill
During neurotransmission, synaptic vesicles undergo multiple rounds of exo-endocytosis, involving recycling and/or degradation of synaptic proteins. While ubiquitin signaling at synapses is essential for neural function, it has been assumed that synaptic proteostasis requires the ubiquitin-proteasome system (UPS). We demonstrate here that turnover of synaptic membrane proteins via the endolysosomal pathway is essential for synaptic function. In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28409011/utility-of-t-wave-amplitude-as-a-non-invasive-risk-marker-of-sudden-cardiac-death-in-hypertrophic-cardiomyopathy
#13
Alan Sugrue, Ammar M Killu, Christopher V DeSimone, Anwar A Chahal, Josh C Vogt, Vaclav Kremen, JoJo Hai, David O Hodge, Nancy G Acker, Jeffrey B Geske, Michael J Ackerman, Steve R Ommen, Grace Lin, Peter A Noseworthy, Peter A Brady
OBJECTIVE: Sudden cardiac arrest (SCA) is the most devastating outcome in hypertrophic cardiomyopathy (HCM). We evaluated repolarisation features on the surface electrocardiogram (ECG) to identify the potential risk factors for SCA. METHODS: Data was collected from 52 patients with HCM who underwent implantable cardioverter defibrillator (ICD) implantation. Leads V2 and V5 from the ECG closest to the time of ICD implant were utilised for measuring the Tpeak-Tend interval (Tpe), QTc, Tpe/QTc, T-wave duration and T-wave amplitude...
2017: Open Heart
https://www.readbyqxmd.com/read/28375139/multi-stage-3d-2d-registration-for-correction-of-anatomical-deformation-in-image-guided-spine-surgery
#14
M D Ketcha, T De Silva, A Uneri, M W Jacobson, J Goerres, G Kleinszig, S Vogt, J-P Wolinsky, J H Siewerdsen
A multi-stage image-based 3D-2D registration method is presented that maps annotations in a 3D image (e.g. point labels annotating individual vertebrae in preoperative CT) to an intraoperative radiograph in which the patient has undergone non-rigid anatomical deformation due to changes in patient positioning or due to the intervention itself. The proposed method (termed msLevelCheck) extends a previous rigid registration solution (LevelCheck) to provide an accurate mapping of vertebral labels in the presence of spinal deformation...
April 4, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28374362/-controls-following-the-first-screening-colonoscopy
#15
REVIEW
Klaus Weckbecker, Michael Vogt
No abstract text is available yet for this article.
April 2017: MMW Fortschritte der Medizin
https://www.readbyqxmd.com/read/28335271/distribution-of-iron-oxide-core-titanium-dioxide-shell-nanoparticles-in-vx2-tumor-bearing-rabbits-introduced-by-two-different-delivery-modalities
#16
Tamer Refaat, Derek West, Samar El Achy, Vamsi Parimi, Jasmine May, Lun Xin, Kathleen R Harris, William Liu, Michael Beau Wanzer, Lydia Finney, Evan Maxey, Stefan Vogt, Reed A Omary, Daniele Procissi, Andrew C Larson, Tatjana Paunesku, Gayle E Woloschak
This work compares intravenous (IV) versus fluoroscopy-guided transarterial intra-catheter (IC) delivery of iron oxide core-titanium dioxide shell nanoparticles (NPs) in vivo in VX2 model of liver cancer in rabbits. NPs coated with glucose and decorated with a peptide sequence from cortactin were administered to animals with developed VX2 liver cancer. Two hours after NPs delivery tumors, normal liver, kidney, lung and spleen tissues were harvested and used for a series on histological and elemental analysis tests...
August 3, 2016: Nanomaterials
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#17
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28322423/uptake-of-non-vitamin-k-antagonist-oral-anti-coagulants-in-patients-with-atrial-fibrillation-a-prospective-cohort-study
#18
Matylda Zimny, Steffen Blum, Peter Ammann, Paul Erne, Giorgio Moschovitis, Marcello Di Valentino, Dipen Shah, Jürg Schläpfer, Cyrill Vogt, Alexandra Tabord, Michael Kühne, Christian Sticherling, Stefan Osswald, David Conen
AIMS: We aimed to assess the uptake of non-vitamin K antagonist oral anticoagulants (NOACs) among patients with atrial fibrillation between 2010 and 2015 in Switzerland. METHODS: We performed a prospective observational cohort study. At the baseline examination and during yearly follow-ups, we used questionnaires to obtain information about clinical characteristics and antithrombotic treatment. Stroke risk was assessed using the CHA2DS2-VASc score. RESULTS: 1545 patients were enrolled across seven centres in Switzerland...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28177300/spinal-pedicle-screw-planning-using-deformable-atlas-registration
#19
J Goerres, A Uneri, T De Silva, M Ketcha, S Reaungamornrat, M Jacobson, S Vogt, G Kleinszig, G Osgood, J-P Wolinsky, J H Siewerdsen
Spinal screw placement is a challenging task due to small bone corridors and high risk of neurological or vascular complications, benefiting from precision guidance/navigation and quality assurance (QA). Implicit to both guidance and QA is the definition of a surgical plan-i.e. the desired trajectories and device selection for target vertebrae-conventionally requiring time-consuming manual annotations by a skilled surgeon. We propose automation of such planning by deriving the pedicle trajectory and device selection from a patient's preoperative CT or MRI...
April 7, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28163879/aerodynamic-evaluation-of-wing-shape-and-wing-orientation-in-four-butterfly-species-using-numerical-simulations-and-a-low-speed-wind-tunnel-and-its-implications-for-the-design-of-flying-micro-robots
#20
Alejandro Ortega Ancel, Rodney Eastwood, Daniel Vogt, Carter Ithier, Michael Smith, Rob Wood, Mirko Kovač
Many insects are well adapted to long-distance migration despite the larger energetic costs of flight for small body sizes. To optimize wing design for next-generation flying micro-robots, we analyse butterfly wing shapes and wing orientations at full scale using numerical simulations and in a low-speed wind tunnel at 2, 3.5 and 5 m s(-1). The results indicate that wing orientations which maximize wing span lead to the highest glide performance, with lift to drag ratios up to 6.28, while spreading the fore-wings forward can increase the maximum lift produced and thus improve versatility...
February 6, 2017: Interface Focus
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