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JOURNAL ARTICLE
Maimuna Adamu, Felix Saka
Myasthenia gravis (MG) is a rare autoimmune neuromuscular disorder characterised by varying degrees of skeletal muscle weakness. Diagnosing MG represents a challenge for clinicians due to the diversity of disease manifestations. We present an unusual case of this disease in an older gentleman in which the patient reported swollen tongue and lips which was incorrectly diagnosed and treated as angioedema. Months later, he developed progressive dysphagia, dysarthria and weight loss. The diagnosis was further delayed by the identification of a hiatal hernia and Zenker's diverticulum after extensive investigation for dysphagia...
December 1, 2023: Age and Ageing
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JOURNAL ARTICLE
Sonmoon Mohapatra, Norio Fukami
Video 1Endoscopic transesophageal retrograde drainage tandem with endoscopic closure for management of esophageal leak after peroral endoscopic myotomy for Zenker diverticulum.
December 2023: VideoGIE
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JOURNAL ARTICLE
Mallory McKeon, Nicole McCoy, Christopher Johnson, Jacqui Allen, Mekibib Altaye, Milan Amin, Semirra Bayan, Peter Belafsky, Brad DeSilva, Greg Dion, Dale Ekbom, Aaron Friedman, Mark Fritz, John Paul Giliberto, Elizabeth Guardiani, Jan Kasperbauer, Brandon Kim, Brittany N Krekeler, Maggie Kuhn, Paul Kwak, Yue Ma, Lyndsay L Madden, Laura Matrka, Ross Mayerhoff, Cyrus Piraka, Clark A Rosen, Meredith Tabangin, Shaun Wahab, Keith Wilson, Carter Wright, VyVy N Young, Gregory Postma, Rebecca J Howell
OBJECTIVES: The aim of the study was to identify trends in postoperative management of persons undergoing surgery for Zenker diverticula (ZD) by evaluating length of stay (LOS), diet on discharge, and imaging with or without surgical complication. METHODS: Prospectively enrolled adult patients with cricopharyngeal muscle dysfunction with diverticula undergoing surgery from August 1, 2017 to February 1, 2023 were included. Data were extracted from a multi-institutional REDCap database, summarizing means, medians, percentages, and frequencies...
December 26, 2023: Laryngoscope
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JOURNAL ARTICLE
Dushyant Singh Dahiya, Smit Deliwala, Saurabh Chandan, Daryl Ramai, Hassam Ali, Lena L Kassab, Antonio Facciorusso, Gursimran S Kochhar
Stag Beetle Knife (SB Knife) is increasingly being utilized for Zenker's Diverticulectomy (ZD). Our study assessed the effectiveness and safety of the SB Knife for the management of ZD. Ovid EBM reviews, Ovid Embase, Ovid Medline, ClinicalTrials.gov, Scopus, and Web of Science were searched to identify studies that utilized SB knife for ZD. Pooled proportions (PP) were calculated using the random-effects model. Heterogeneity was evaluated using I2 statistics. A total of 7 studies with 268 patients were included in the final analysis...
December 14, 2023: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
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JOURNAL ARTICLE
Ippei Tanaka, Yuto Shimamura, Haruhiro Inoue, Daisuke Azuma, Kei Ushikubo, Kazuki Yamamoto, Hiroki Okada, Yoshiaki Kimoto, Yohei Nishikawa, Kaori Owada, Mayo Tanabe, Manabu Onimaru
BACKGROUND AND AIMS: Killian-Jamieson diverticulum (KJD) is a relatively uncommon variant of pharyngoesophageal diverticula, distinct from the more prevalent Zenker's diverticulum. However, literature on endoscopic management of KJD remains limited. This study aimed to elucidate the efficacy and safety of peroral endoscopic septotomy (POES) as a treatment approach for symptomatic KJD. METHODS: In this retrospective observational study, we investigated the outcomes of 9 consecutive patients who underwent POES for KJD between January 2019 and May 2023...
December 4, 2023: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
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JOURNAL ARTICLE
Georgios Mavrogenis, Fateh Bazerbachi
No abstract text is available yet for this article.
December 2023: Endoscopy
#27
REVIEW
Francesco Vito Mandarino, Edoardo Vespa, Alberto Barchi, Ernesto Fasulo, Emanuele Sinagra, Francesco Azzolini, Silvio Danese
Our review delves into the realm of peroral endoscopic myotomies (POEMs) in the upper gastrointestinal tract (UGT). In recent years, POEMs have brought about a revolution in the treatment of UGT motility disorders. Esophageal POEM, the first to be introduced, has now been validated as the primary treatment for achalasia. Subsequently developed, G-POEM displays promising results in addressing refractory gastroparesis. Over time, multiple endoscopic myotomy techniques have emerged for the treatment of Zenker's diverticulum, including Z-POEM, POES, and hybrid approaches...
October 31, 2023: Life
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MULTICENTER STUDY
Lihua Ren, Hui Ye, Ye Zhu, Weihua Xie, Yan Liang, Yang Liu, Jingwu Dong, Weixu Chen, Xinfu Chen, Bin Wang, Liang Pan, Ruihua Shi
OBJECTIVE: To evaluate the medium- and long-term outcomes of diverticular peroral endoscopic myotomy (D-POEM) for symptomatic oesophageal diverticulum. METHODS: Consecutive patients with symptomatic oesophageal diverticulum who underwent D-POEM from 1st May 2016 to 1st April 2020 in 6 centres were extracted and researched. Symptoms assessed by the modified Eckardt score were registered pre- and post-D-POEM at 1, 6, 12, 24 and 36 months. RESULTS: A total of 34 patients with Zenker's diverticulum (ZD, n = 12), mid-oesophageal diverticulum (MED, n = 12), and epiphrenic diverticulum (ED, n = 10) were included...
January 2024: Surgical Endoscopy
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JOURNAL ARTICLE
Elizabeth I Pierpont, Anton M Bennett, Lisa Schoyer, Beth Stronach, April Anschutz, Sarah C Borrie, Benjamin Briggs, Emma Burkitt-Wright, Pau Castel, Ion C Cirstea, Fieke Draaisma, Michelle Ellis, Vanessa S Fear, Megan N Frone, Elisabetta Flex, Bruce D Gelb, Tamar Green, Karen W Gripp, Sattar Khoshkhoo, Mark W Kieran, Karolin Kleemann, Bonita P Klein-Tasman, Maria I Kontaridis, Paul Kruszka, Chiara Leoni, Clifford Z Liu, Nadia Merchant, Pilar L Magoulas, Christopher Moertel, Carlos E Prada, Katherine A Rauen, Renée Roelofs, Rodrigue Rossignol, Christine Sevilla, Gigi Sevilla, Ryan Sheedy, Elliot Stieglitz, Daochun Sun, Dagmar Tiemens, Forest White, Ellen Wingbermühle, Cordula Wolf, Martin Zenker, Gregor Andelfinger
Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials...
November 15, 2023: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flotho
Juvenile myelomonocytic leukaemia (JMML) is characterized by gene variants that deregulate the RAS signalling pathway. Children with neurofibromatosis type 1 (NF-1) carry a defective NF1 allele in the germline and are predisposed to JMML, which presumably requires somatic inactivation of the NF1 wild-type allele. Here we examined the two-hit concept in leukaemic cells of 25 patients with JMML and NF-1. Ten patients with JMML/NF-1 exhibited a NF1 loss-of-function variant in combination with uniparental disomy of the 17q arm...
November 9, 2023: British Journal of Haematology
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JOURNAL ARTICLE
Simon Y W Che, Stephanie Joseph, Kristine Kuchta, Julia R Amundson, Vanessa N VanDruff, Shun Ishii, Christopher J Zimmermann, Herbert M Hedberg, Michael B Ujiki
INTRODUCTION: Zenker's diverticulum (ZD) is a false pulsion diverticulum of the cervical esophagus. It is typically found in older adults and manifests with dysphagia. The purpose of this study is to describe our experience with Per-oral endoscopic myotomy for Zenker's (Z-POEM) and intraoperative impedance planimetry (FLIP). METHODS: We performed a single institution retrospective review of patients undergoing Z-POEM in a prospective database between 2014 and 2022...
November 7, 2023: Surgical Endoscopy
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JOURNAL ARTICLE
David Backhoff, Matthias J Müller, Yannic Wilberg, Katja Eildermann, Thomas Paul, Dieter Zenker, Ulrich Krause
AIMS: State-of-the-art pacemaker implantation technique in infants and small children consists of pace/sense electrodes attached to the epicardium and a pulse generator in the abdominal wall with a significant rate of dysfunction during growth, mostly attributable to lead failure. In order to overcome lead-related problems, feasibility of epicardial implantation of a leadless pacemaker at the left ventricular apex in a growing animal model was studied. METHODS AND RESULTS: Ten lambs (median body weight 26...
October 5, 2023: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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JOURNAL ARTICLE
Daniel L Kenney-Jung, Josue E Collazo-Lopez, Dante J Rogers, Ryan Shanley, Abigail L Zatkalik, Ashley E Whitmarsh, Amy E Roberts, Martin Zenker, Elizabeth I Pierpont
Treatment-resistant epilepsy is among the most serious complications of cardiofaciocutaneous syndrome (CFCS), a rare disorder caused by germline variants in the RAS-MAPK signaling pathway. This study analyzed the clinical characteristics of epilepsy and response to anti-seizure medications (ASMs) in a multinational CFCS cohort. A caregiver survey provided data regarding seizure history, use of ASMs and other treatment approaches, adverse effects, caregiver perception of treatment response, and neurological disease burden impact among individuals with CFCS...
October 12, 2023: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Ravishankar Asokkumar, Jeanette Pei Xuan Ng, Francisco Carlos Paolo Dimatatac, Yi Yuan Tan, Christopher Khor, Mark Cheah Chang Chuen
No abstract text is available yet for this article.
December 2023: Endoscopy
#35
JOURNAL ARTICLE
Olga D Boleti, Sotirios Roussos, Gabrielle Norrish, Ella Field, Stephanie Oates, Jennifer Tollit, Gauri Nepali, Vinay Bhole, Orhan Uzun, Piers E F Daubeney, Graham A Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Ali Liaqath, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Bernadette Khodaghalian, Caroline Jones, Jonathan Searle, Sujeev Mathur, Nicola Boyd, Zdenka Reindhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Martin Zenker, Cordula Maria Wolf, Juan Pablo Kaski
BACKGROUND: RASopathies account for nearly 20% of cases of childhood hypertrophic cardiomyopathy (HCM). Sudden cardiac death (SCD) occurs in patients with RASopathy-associated HCM, but the risk factors for SCD have not been systematically evaluated. AIM: To validate the HCM Risk-Kids SCD risk prediction model in children with RASopathy-associated HCM and investigate potential specific SCD predictors in this population. METHODS: Validation of HCM Risk-Kids was performed in a retrospective cohort of 169 patients with a RASopathy-associated HCM from 15 international paediatric cardiology centres...
September 28, 2023: International Journal of Cardiology
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JOURNAL ARTICLE
Maria Bisquert-Ribes, Juan Rueda, Ferran Palero, Sukonthip Savatenalinton, Francesc Mesquita-Joanes
The two widespread ostracod genera Cypria Zenker, 1854 and Physocypria Vávra, 1897 are traditionally distinguished based on the presence or absence of tubercles on the right valve margin. However, recent research based on soft body parts has uncovered new cryptic genera within Cypria and Physocypria . Following this line of research, a new Cyclocyprididae genus and species, Vizcainocypria viator gen. nov. sp. nov., is here described from individuals collected in rice fields and wetlands of the Iberian Peninsula...
2023: Zoological Studies (Taipei, Taiwan)
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JOURNAL ARTICLE
Ting-Ting Guo, Yan-Bo Dong, Yu-He Liu, Cheng Lu, Wan-Xin Li
Objectives: Laimer's diverticulum (LD) is a very rare clinical entity originating between the cricopharyngeus muscle (CPM) and circular muscular fibers of the esophagus. Its diagnosis and management remain to be elucidated. This article summarizes our experience in its diagnosis and open surgical management. Methods: A retrospective review of LD cases treated at our tertiary medical institution was conducted between July 2018 and May 2023. The clinical and demographic data were retrieved from case notes. Results: Three cases were included in this review...
September 26, 2023: Ear, Nose, & Throat Journal
#38
JOURNAL ARTICLE
Henriette Hoffmann, Ansgar Jonietz, Willy Gräfe, Ronny Zenker, Karen Voigt, Henna Riemenschneider
BACKGROUND: 54% of the German population has limited health literacy, which is associated with poorer health outcomes and higher utilization of the healthcare system. AIM OF THE STUDY: The aim of this pilot study was to examine the effects of an easy-to-understand patient letter on patients' health literacy after discharge from a Clinic for Internal Medicine and to analyze patients' need for written, easy-to-understand information. METHOD: In a randomized controlled trial (2016-2018), the effects of the patient letter on health literacy were examined by means of the HLS-EU-Q47 questionnaire...
September 2023: Das Gesundheitswesen
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JOURNAL ARTICLE
Katrin Vogel, Aditya Arra, Holger Lingel, Dirk Bretschneider, Florian Prätsch, Denny Schanze, Martin Zenker, Silke Balk, Dunja Bruder, Robert Geffers, Thomas Hachenberg, Christoph Arens, Monika C Brunner-Weinzierl
Microbial infections early in life are challenging for the unexperienced immune system. The SARS-CoV-2 pandemic again has highlighted that neonatal, infant, child, and adult T-helper(Th)-cells respond differently to infections, and requires further understanding. This study investigates anti-bacterial T-cell responses against Staphylococcus aureus aureus, Staphylococcus epidermidis and Bifidobacterium longum infantis in early stages of life and adults and shows age and pathogen-dependent mechanisms. Beside activation-induced clustering, T-cells stimulated with Staphylococci become Th1-type cells; however, this differentiation is mitigated in Bifidobacterium-stimulated T-cells...
September 23, 2023: Nature Communications
#40
JOURNAL ARTICLE
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
C-terminal variants in CDC42 encoding cell division control protein 42 homolog underlie neonatal-onset cytopenia, autoinflammation, rash, and hemophagocytic lymphohistiocytosis (NOCARH). Pyrin inflammasome hyperactivation has been shown to contribute to disease pathophysiology. However, mortality of NOCARH patients remains high despite inflammasome-focused treatments. Here, we demonstrate in four NOCARH patients from three families that cell-intrinsic activation of type I interferon (IFN) is a previously unrecognized driver of autoinflammation in NOCARH...
September 21, 2023: Clinical Immunology: the Official Journal of the Clinical Immunology Society
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