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https://www.readbyqxmd.com/read/28303554/imaging-of-the-oesophagus-beyond-cancer
#1
REVIEW
Thomas Marini, Amit Desai, Katherine Kaproth-Joslin, John Wandtke, Susan K Hobbs
Non-malignant oesophageal diseases are critical to recognize, but can be easily overlooked or misdiagnosed radiologically. In this paper, we cover the salient clinical features and imaging findings of non-malignant pathology of the oesophagus. We organize the many non-malignant diseases of the oesophagus into two major categories: luminal disorders and wall disorders. Luminal disorders include dilatation/narrowing (e.g. achalasia, scleroderma, and stricture) and foreign body impaction. Wall disorders include wall thickening (e...
March 17, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28275907/changes-in-swallowing-related-quality-of-life-after-endoscopic-treatment-for-zenker-s-diverticulum-using-swal-qol-questionnaire
#2
REVIEW
C Colpaert, O M Vanderveken, K Wouters, P Van de Heyning, C Van Laer
Dysphagia affects the most cardinal of human functions: the ability to eat and drink. The aim of this prospective study was to evaluate swallowing dysfunction in patients diagnosed with Zenker's diverticulum using the Swallowing Quality of Life (SWAL-QOL) questionnaire preoperatively. In addition, SWAL-QOL was used to assess changes in the outcome of swallowing function after endoscopic treatment of Zenker's diverticulum compared to baseline. Pre- and postoperative SWAL-QOL data were analyzed in 25 patients who underwent endoscopic treatment of Zenker's diverticulum between January 2011 and December 2013...
March 9, 2017: Dysphagia
https://www.readbyqxmd.com/read/28254638/deliberately-light-interpersonal-contact-affects-the-control-of-head-stability-during-walking-in-children-and-adolescents-with-cerebral-palsy
#3
Katrin Hanna Schulleri, Frauke Burfeind, Beate Höß-Zenker, Éva Feketené Szabó, Nadine Herzig, Annick Ledebt, Leif Johannsen
OBJECTIVE: To evaluate the potential of deliberately light interpersonal touch (IPT) for reducing excessive head and trunk sway during self-paced walking in children and adolescents with cerebral palsy (CP). DESIGN: Quasi-experimental, proof-of-concept study with between-groups comparison. SETTING: Ambulant care facility, community center. PARTICIPANTS: 26 individuals with CP (spastic and ataxic; GMFCS I-III; mean=9...
February 27, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28236012/application-of-a-computer-assisted-flexible-endoscope-system-for-transoral-surgery-of-the-hypopharynx-and-upper-esophagus
#4
Daniel T Friedrich, M O Scheithauer, J Greve, N Rotter, J Doescher, T K Hoffmann, P J Schuler
Zenker's diverticulum is a common pathology in the transition zone of the posterior hypopharynx and esophagus. Surgical treatment is routinely performed by ENT and general surgeons. Besides the traditional open transcervical diverticulectomy, the introduction of transoral rigid treatment led to a paradigm change and is now the preferred treatment option for patients who are fit for general anesthesia. The implementation of interventional flexible endoscopy has opened another new micro-invasive approach for patients with high morbidity...
February 24, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28220306/long-term-results-using-ligasure%C3%A2-5%C3%A2-mm-instrument-for-treatment-of-zenker-s-diverticulum
#5
Michelle Fog Andersen, Waldemar Trolle, Kristian Anthonsen, Hans Ulrik Nielsen, Preben Homøe
The purpose of the present study was to evaluate the long-term results and patient's satisfaction of a new approach using the LigaSure™ 5 mm instrument for treatment of Zenker's diverticulum (ZD) and to compare with other long-term results using traditional treatment modalities. Between December 2011 and August 2013, a total of 23 patients with ZD underwent endoscopic surgery using the LigaSure™ technique in our department. A retrospective evaluation of the surgery was based on medical records and additionally a long-term follow-up was performed using a standardized questionnaire that was send to all patients...
April 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28168833/childhood-cancer-predisposition-syndromes-a-concise-review-and-recommendations-by-the-cancer-predisposition-working-group-of-the-society-for-pediatric-oncology-and-hematology
#6
Tim Ripperger, Stefan S Bielack, Arndt Borkhardt, Ines B Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M Kramm, Michaela Kuhlen, Andreas E Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H Meyer, Olga Moser, Michaela Nathrath, Charlotte M Niemeyer, Rainer Nustede, Kristian W Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M Pfister, Christian P Kratz
Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their associated syndromes and malignancies have already been described, it appears likely that there are more pediatric cancer patients in whom heritable cancer predisposition syndromes have yet to be recognized. In a consensus meeting in the beginning of 2016, we convened experts in Human Genetics and Pediatric Hematology/Oncology to review the available data, to categorize the large amount of information, and to develop recommendations regarding when a cancer predisposition syndrome should be suspected in a young oncology patient...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphate-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#7
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28111185/novel-frem1-mutations-in-a-patient-with-mota-syndrome-clinical-findings-mutation-update-and-review-of-frem1-related-disorders-literature
#8
REVIEW
Oscar F Chacon-Camacho, Martin Zenker, Denny Schanze, Jasbeth Ledesma-Gil, Juan C Zenteno
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28108931/systematic-review-and-meta-analysis-of-surgicaltreatment-of-non-zenker-s-oesophageal-diverticula
#9
David S Y Chan, Antonio Foliaki, Wyn G Lewis, Geoffrey W B Clark, Guy R J C Blackshaw
BACKGROUND: Oesophageal diverticula are rare outpouchings of the oesophagus which may be classified anatomically as pharyngeal (Zenker's), mid-oesophageal and epiphrenic. While surgery is indicated for symptomatic patients, no consensus exists regarding the optimum technique for non-Zenker's oesophageal diverticula. The aim of this study was to determine the outcome of surgery in patients with non-Zenker's oesophageal diverticula. METHODS: PubMed, MEDLINE and the Cochrane Library (January 1990 to January 2016) were searched for studies which reported outcomes of surgery in patients with non-Zenker's oesophageal diverticula...
January 20, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28081029/a-rarely-seen-complication-that-causes-increase-in-morbidity-in-tetraplegic-patients-zenker-diverticula
#10
Zeynep Kiraç Ünal, Ebru Umay, İbrahim Gündoğdu, Yasemin Tombak, Aytül Çakci
Although spinal cord injury (SCI) damages the spinal cord, physiological changes due to SCI can affect many organs and systems of the human body. While respiratory problems are common following cervical SCI, dysphagia is a relatively uncommon secondary complication that occurs after cervical SCI. We report a case of recurrent aspiration pneumonia due to Zenker diverticulum in 26-year-old tetraplegic patient with a chronic history of silent aspirations and dysphagia contributing to functional disability.
January 9, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28078879/zenker-diverticulum-in-the-right-side-of-the-neck-resembling-a-thyroid-mass-at-ultrasound
#11
LETTER
S Alessandrini, I Samperi, F De Cristofaro, E D'Armiento, D Diacinti, A Pernazza, D Bosco, V Ascoli, S Ulisse
Zenker’s diverticulum represents the most common form of pharyngo-oesophageal diverticula usually occurring on the left side of the neck. Due to its anatomical proximity to the thyroid, it can mimic a thyroid mass. Here we describe the case of an asymptomatic 49-year-old man referred to the Thyroid Clinic of the Policlinico Umberto I Hospital-“Sapienza” University of Rome for thyroid sonography due to a family history of autoimmune thyroid disease. The patient’s thyroid blood tests did not reveal any abnormalities...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28074573/structural-functional-and-clinical-characterization-of-a-novel-ptpn11-mutation-cluster-underlying-noonan-syndrome
#12
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B Ferrero, Simone Martinelli, Marco Tartaglia
Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu(261) , Leu(262) , and Arg(265) in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28054111/-surgical-treatment-of-esophageal-diverticula-endoscopic-or-open-approach
#13
H Feußner, N Hüser, D Wilhelm, A Fingerle, A Jell, H Friess, M Bajbouj
Esophageal diverticula are comparatively rare. The majority are Zenker's diverticula but parabronchial and epiphrenic diverticula can also occur. Parabronchial diverticula are of low clinical relevance, whereas Zenker's and epiphrenic diverticula both belong to the group of pulsion diverticula and can become clinically apparent by dysphagia and regurgitation. Approximately 100 years after the first surgical treatment, peroral approaches (e.g. stapler dissection and flexible endoscopic diverticulotomy) have now achieved a certain level of importance...
January 4, 2017: Der Chirurg; Zeitschrift Für Alle Gebiete der Operativen Medizen
https://www.readbyqxmd.com/read/28052332/normal-fluoroscopic-appearance-status-post-successful-endoscopic-zenker-diverticulotomy
#14
Naren N Venkatesan, Lisa M Evangelista, Maggie A Kuhn, Peter C Belafsky
OBJECTIVE: Endoscopic Zenker diverticulotomy (EZD) is a primary treatment for Zenker diverticulum (ZD). During EZD, the diverticulum is not excised, and interpretation of postoperative videofluoroscopic swallow study (VFSS) is challenging. The purpose of this investigation was to describe normal VFSS findings status post-successful EZD. METHODS: The charts of all patients with ZD treated at our center between October 01, 2011, and May 30, 2014, were abstracted. Outcome measures included recidivistic diverticulum size, Eating Assessment Tool-10 (EAT-10), penetration aspiration scale, pharyngeal constriction ratio (PCR), and pharyngoesophageal segment (PES) opening...
January 4, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28042249/endoscopic-treatment-of-a-zenker-s-bilocular-diverticulum-with-cap-and-tt-knife-catheter
#15
Konstantinos Delis, John Robotis, Michalis Chronakis
No abstract text is available yet for this article.
2017: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/28033492/how-cells-change-shape-and-position-in-the-early-mammalian-embryo
#16
REVIEW
Melanie D White, Jennifer Zenker, Stephanie Bissiere, Nicolas Plachta
During preimplantation development, cells of the mammalian embryo must resolve their shape and position to ensure the future viability of the fetus. These initial changes are established as the embryo expands from one to thirty-two cells, and a group of originally spherical cells is transformed into a more polarized structure with distinct cell geometries and lineages. Recent advances in the application of non-invasive imaging technologies have enabled the discovery of mechanisms regulating patterning of the early mammalian embryo...
December 26, 2016: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/27993297/young-child-with-breathlessness
#17
Marjolein Slaa, Nicole Dyer, Imke Zenker, Peter Ferguson, Simon Craig
No abstract text is available yet for this article.
January 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/27933354/-pathophysiology-diagnosis-and-treatment-of-zenker-s-diverticulum
#18
T Hussain, J T Maurer, S Lang, B A Stuck
Zenker's diverticulum occurs at the dorsal pharyngoesophageal junction through Killian's dehiscence and is caused by increased intrabolus pressure. Symptomatic disease most frequently affects male elderly patients. Primary symptom is oropharyngeal dysphagia, as well as regurgitation of undigested food, halitosis, and chronic aspiration. A barium swallow study is performed to confirm diagnosis. Treatment options for symptomatic patients include open surgery, as well as transoral rigid or flexible endoscopic procedures...
December 8, 2016: HNO
https://www.readbyqxmd.com/read/27900775/pilot-testing-of-a-novel-surgical-simulator-for-endoscopic-zenker-s-diverticulotomy
#19
Nathan D Wiebracht, John P Giliberto, Charles Myer, Keith Casper, Kaalan E Johnson
OBJECTIVES/HYPOTHESIS: Restrictions on resident work hours and the increasing purview of otolaryngology reduce the efficacy of the traditional surgical training model. With limited case volumes at many institutions and the unique instrumentation of endoscopic Zenker's diverticulotomy (EZD), simulation may be useful to improve training. In this study, a novel surgical simulator for EZD is developed and validated. STUDY DESIGN: Simulation model development. METHODS: An EZD model was designed using an intubation trainer and disposable diverticulum inserts...
November 30, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27861610/the-chloroplast-srp-systems-of-chaetosphaeridium-globosum-and-physcomitrella-patens-as-intermediates-in-the-evolution-of-srp-dependent-protein-transport-in-higher-plants
#20
Dominik Ziehe, Beatrix Dünschede, Mira Zenker, Silke Funke, Marc M Nowaczyk, Danja Schünemann
The bacterial signal recognition particle (SRP) mediates the cotranslational targeting of membrane proteins and is a high affinity complex consisting of a SRP54 protein subunit (Ffh) and an SRP RNA. The chloroplast SRP (cpSRP) pathway has adapted throughout evolution to enable the posttranslational targeting of the light harvesting chlorophyll a/b binding proteins (LHCPs) to the thylakoid membrane. In spermatophytes (seed plants), the cpSRP lacks the SRP RNA and is instead formed by a high affinity interaction of the conserved 54-kD subunit (cpSRP54) with the chloroplast-specific cpSRP43 protein...
2016: PloS One
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