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https://www.readbyqxmd.com/read/28447247/the-role-of-peripheral-myelin-protein-2-in-remyelination
#1
Mark Stettner, Jennifer Zenker, Fabian Klingler, Fabian Szepanowski, Hans-P Hartung, Anne K Mausberg, Christoph Kleinschnitz, Roman Chrast, Bernd C Kieseier
The protein component of the myelin layer is essential for all aspects of peripheral nerves, and its deficiency can lead to structural and functional impairment. The presence of peripheral myelin protein 2 (P2, PMP2, FABP8, M-FABP) in Schwann cells has been known for decades and shown recently to be involved in the lipid homeostasis in the peripheral neural system. However, its precise role during de- and remyelination has yet to be elucidated. To this end, we assessed remyelination after sciatic nerve crush injury in vivo, and in an experimental de/remyelination ex vivo myelinating culture model in P2-deficient (P2 (-/-) ) and wild-type (WT) animals...
April 26, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28446979/zenker-s-diverticulum-flexible-versus-rigid-repair
#2
REVIEW
Kristen Beard, Lee L Swanström
Zenker's diverticula (ZDs) are a relatively common cause of cervical dysphagia. Diagnosis is best by a good upper GI exam though upper endoscopy should be performed as well. Treatment is either by open, transcervical approaches or trans-oral. Over the past 20 years, transoral approach has mostly replace transcervical approaches due to less pain, no scarring and a rapid recovery. Transoral approaches are either using rigid access or flexible endoscopy. Today, the most common approach is transoral stapling using a 12 mm laparoscopic linear cutting stapler...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28439696/back-to-the-future-part-1-the-medico-legal-autopsy-from-ancient-civilization-to-the-post-genomic-era
#3
REVIEW
Giovanni Cecchetto, Thomas Bajanowski, Rossana Cecchi, Donata Favretto, Silke Grabherr, Takaki Ishikawa, Toshikazu Kondo, Massimo Montisci, Heidi Pfeiffer, Maurizio Rippa Bonati, Dina Shokry, Marielle Vennemann, Santo Davide Ferrara
Part 1 of the review "Back to the Future" examines the historical evolution of the medico-legal autopsy and microscopy techniques, from Ancient Civilization to the Post-Genomic Era. In the section focusing on "The Past", the study of historical sources concerning the origins and development of the medico-legal autopsy, from the Bronze Age until the Middle Ages, shows how, as early as 2000 BC, the performance of autopsies for medico-legal purposes was a known and widespread practice in some ancient civilizations in Egypt, the Far East and later in Europe...
April 24, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28420024/-from-the-expert-s-office-resection-of-thyroid-tissue-instead-of-zenker-s-diverticulum-a-medical-malpractice
#4
M Ellies, A Stapel
No abstract text is available yet for this article.
March 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28375480/same-day-discharge-in-benign-esophageal-surgery-a-prospective-cohort-study
#5
A Desbeaux, C Gronnier, G Piessen, M Vanderbeken, N Ruolt, J-P Triboulet, C Mariette
Day-case esophageal surgery has been demonstrated to be safe in small prospective cohorts and only for laparoscopic fundoplication. The aims of this study are to assess the feasibility and safety of a large series of esophageal day-case surgeries, including laparoscopic Nissen fundoplication (LNF), Zenker diverticulectomy (ZD), and laparoscopic Heller myotomy (LHM) and to compare the outcomes among three procedures.This was a prospective, observational study of selected patients who underwent day-case LNF, ZD, and LHM between 2003 and 2013...
April 1, 2017: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/28369509/revisiting-the-human-seminiferous-epithelium-cycle
#6
F Nihi, M L M Gomes, F A R Carvalho, A B Reis, R Martello, R C N Melo, F R C L Almeida, H Chiarini-Garcia
STUDY QUESTION: Can all types of testicular germ cells be accurately identified by microscopy techniques and unambiguously distributed in stages of the human seminiferous epithelium cycle (SEC)? SUMMARY ANSWER: By using a high-resolution light microscopy (HRLM) method, which enables an improved visualization of germ cell morphological features, we identified all testicular germ cells in the seminiferous epithelium and precisely grouped them in six well-delimitated SEC stages, thus providing a reliable reference source for staging in man...
March 28, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28347712/novel-endoscopic-scissors-for-the-treatment-of-zenker-s%C3%A2-diverticulum
#7
Sujievvan Chandran, Yuto Shimamura, Christopher Teshima
No abstract text is available yet for this article.
May 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28346493/aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#8
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
Noonan syndrome (NS) is characterized by reduced growth, craniofacial abnormalities, congenital heart defects, and variable cognitive deficits. NS belongs to the RASopathies, genetic conditions linked to mutations in components and regulators of the Ras signaling pathway. Approximately 50% of NS cases are caused by mutations in PTPN11. However, the molecular mechanisms underlying cognitive impairments in NS patients are still poorly understood. Here, we report the generation and characterization of a new conditional mouse strain that expresses the overactive Ptpn11D61Y allele only in the forebrain...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28341539/functional-results-in-endoscopic-zenker-s-diverticulum-surgery
#9
A Dissard, L Gilain, R Pastourel, T Mom, N Saroul
OBJECTIVES: The main objective of this retrospective study was to assess functional results in endoscopic Zenker's diverticulum surgery. The secondary objectives were to assess safety, identify recurrence risk factors, and determine optimal management of recurrence. MATERIAL AND METHODS: From 2000 to 2014, 50 patients underwent endoscopic surgery for marsupialization of Zenker's diverticulum. Regurgitation and dysphagia were assessed on the FOIS scale, pre- and post-operatively...
March 21, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28303554/imaging-of-the-oesophagus-beyond-cancer
#10
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
#11
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
#12
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: Children and adolescents (N=65), consisting of those with CP (spastic and ataxic, n=26; Gross Motor Function Classification System I-III; mean age, 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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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