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1. Anosmia-A Clinical Review.

Author

Boesveldt, Sanne, Postma, Elbrich M, Boak, Duncan, Welge-Luessen, Antje, Schöpf, Veronika, Mainland, Joel D, Martens, Jeffrey, Ngai, John, and Duffy, Valerie B

Subjects
Clinical Research, Neurosciences, Rare Diseases, Good Health and Well Being, Delivery of Health Care, Humans, Neuronal Plasticity, Olfaction Disorders, Prognosis, Quality of Life, Smell, Stem Cell Transplantation, genetics, neural reorganization, olfactory dysfunction, quality of life, stem cell regeneration, treatment, Biological Sciences, Neurology & Neurosurgery
Abstract

Anosmia and hyposmia, the inability or decreased ability to smell, is estimated to afflict 3-20% of the population. Risk of olfactory dysfunction increases with old age and may also result from chronic sinonasal diseases, severe head trauma, and upper respiratory infections, or neurodegenerative diseases. These disorders impair the ability to sense warning odors in foods and the environment, as well as hinder the quality of life related to social interactions, eating, and feelings of well-being. This article reports and extends on a clinical update commencing at the 2016 Association for Chemoreception Sciences annual meeting. Included were reports from: a patient perspective on losing the sense of smell with information on Fifth Sense, a nonprofit advocacy organization for patients with olfactory disorders; an otolaryngologist's review of clinical evaluation, diagnosis, and management/treatment of anosmia; and researchers' review of recent advances in potential anosmia treatments from fundamental science, in animal, cellular, or genetic models. As limited evidence-based treatments exist for anosmia, dissemination of information on anosmia-related health risks is needed. This could include feasible and useful screening measures for olfactory dysfunction, appropriate clinical evaluation, and patient counseling to avoid harm as well as manage health and quality of life with anosmia.

Published
2017

2. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Author

Aung, Tin, Ozaki, Mineo, Lee, Mei, Schlötzer-Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert, Haripriya, Aravind, Williams, Susan, Astakhov, Yury, Orr, Andrew, Burdon, Kathryn, Nakano, Satoko, Mori, Kazuhiko, Abu-Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica, Cherecheanu, Alina, Kang, Jae, Nelson, Sarah, Hayashi, Ken, Manabe, Shin-Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca-Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki, Cha, Soon, Yamashiro, Kenji, Zenteno, Juan, Jonas, Jost, Kumar, Rajesh, Perera, Shamira, Chan, Anita, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak, de Juan Marcos, Lourdes, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach-Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya-Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthias, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge-Luessen, Ulrich-Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofanis, Anastasopoulos, Eleftherios, Lambropoulos, Alexandros, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan, Beni, Afsaneh, and Yazdani, Shahin

Subjects
Aged, 80 and over, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian People, Calcium Channels, Cell Adhesion, Exfoliation Syndrome, Extracellular Matrix, Eye, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, Humans, Male, Molecular Chaperones, Mutation, Missense, Point Mutation, RNA, Messenger, Spheroids, Cellular
Abstract

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017

3. Position paper on olfactory dysfunction: 2023

Author

Whitcroft, K L, primary, Altundag, A, additional, Balungwe, P, additional, Boscolo-Rizzo, P, additional, Douglas, R, additional, Enecilla, M L B, additional, Fjaeldstad, A W, additional, Fornazieri, M A, additional, Frasnelli, J, additional, Gane, S, additional, Gudziol, H, additional, Gupta, N, additional, Haehner, A, additional, Hernandez, A K, additional, Holbrook, E H, additional, Hopkins, C, additional, Hsieh, J W, additional, Huart, C, additional, Husain, S, additional, Kamel, R, additional, Kim, J K, additional, Kobayashi, M, additional, Konstantinidis, I, additional, Landis, B N, additional, Lechner, M, additional, Macchi, A, additional, Mazal, P P, additional, Miri, I, additional, Miwa, T, additional, Mori, E, additional, Mullol, J, additional, Mueller, C A, additional, Ottaviano, G, additional, Patel, Z M, additional, Philpott, C, additional, Pinto, J M, additional, Ramakrishnan, V R, additional, Roth, Y, additional, Schlosser, R J, additional, Stjärne, P, additional, Van Gerven, L, additional, Vodicka, J, additional, Welge-Luessen, A, additional, Wormald, P J, additional, and Hummel, T, additional

Published
2023
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4. Olfactory Nomenclature: An Orchestrated Effort to Clarify Terms and Definitions of Dysosmia, Anosmia, Hyposmia, Normosmia, Hyperosmia, Olfactory Intolerance, Parosmia, and Phantosmia/Olfactory Hallucination

Author

Anna Kristina Hernandez, Basile Landis, Aytug Altundag, Alexander Wieck Fjaeldstad, Simon Gane, Eric H Holbrook, Caroline Huart, Iordanis Konstantinidis, Matt Lechner, Alberto Macchi, Patricia Portillo Mazal, Takaki Miwa, Carl M. Philpott, Jayant M. Pinto, Sophia C Poletti, Jan Vodicka, Antje Welge-Luessen, Katherine L. Whitcroft, and Thomas Hummel

Subjects
Otorhinolaryngology, 610 Medicine & health
Abstract

Background: Definitions are essential for effective communication and discourse, particularly in science. They allow the shared understanding of a thought or idea, generalization of knowledge, and comparison across scientific investigation. The current terms describing olfactory dysfunction are vague and overlapping. Summary: As a group of clinical olfactory researchers, we propose the standardization of the terms “dysosmia,” “anosmia,” “hyposmia,” “normosmia,” “hyperosmia,” “olfactory intolerance,” “parosmia,” and “phantosmia” (or “olfactory hallucination”) in olfaction-related communication, with specific definitions in this text. Key Messages: The words included in this paper were determined as those which are most frequently used in the context of olfactory function and dysfunction, in both clinical and research settings. Despite widespread use in publications, however, there still exists some disagreement in the literature regarding the definitions of terms related to olfaction. Multiple overlapping and imprecise terms that are currently in use are confusing and hinder clarity and universal understanding of these concepts. There is a pressing need to have a unified agreement on the definitions of these olfactory terms by researchers working in the field of chemosensory sciences. With the increased interest in olfaction, precise use of these terms will improve the ability to integrate and advance knowledge in this field.

Published
2023

6. SARS-CoV-2 Leads to Significantly More Severe Olfactory Loss than Other Seasonal Cold Viruses

Author

Antje Haehner, Belinda Marquardt, Romina Kardashi, Katja de With, Susann Rößler, Basile Nicolas Landis, Antje Welge-Luessen, and Thomas Hummel

Subjects
COVID-19, SARS-CoV-2, smell, olfactory loss, virus, Science
Abstract

The aim of this study was to investigate whether COVID-associated olfactory impairment differs from olfactory disorders due to other upper respiratory tract infections. We investigated the frequency of a SARS-CoV-2 infection among subjects presenting with a subjective olfactory impairment to a corona outpatient clinic between October 2020 and March 2021. Olfactory and gustatory loss were tested psychophysically, and the type of infection, SARS-CoV-2 versus 14 other common cold viruses, was assessed with nasopharyngeal swabs. Differences between the smell impairment caused by the pathogens were compared. Out of the 2120 patients, 314 reported sudden smell and/or taste loss (14%). In 68.9% of them, olfactory and in 25.6%, gustatory dysfunction could be confirmed by psychophysical testing. Of those with a psychophysically determined loss of smell, 61% were tested positive for SARS-CoV-2. SARS-CoV-2 led to a significantly more severe loss of smell and more qualitative olfactory disorders than other pathogens. Apart from rhinorrhea, shortness of breath and sore throat accompanying cold symptoms do not differ significantly between the viruses indicating the particular importance of smell loss in the differential diagnosis of seasonal colds. Multiplex-PCR in non-COVID patients revealed that only 27% of them had rhinoviruses, whereas the remainder were no further identified pathogens. Olfactory screening significantly increases diagnostic accuracy in COVID-19 patients compared to subjective assessment of olfactory loss.

Published
2022
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8. Olfactory Nomenclature: An Orchestrated Effort to Clarify Terms and Definitions of Dysosmia, Anosmia, Hyposmia, Normosmia, Hyperosmia, Olfactory Intolerance, Parosmia, and Phantosmia/Olfactory Hallucination.

Author

Hernandez, Anna Kristina, Landis, Basile N., Altundag, Aytug, Fjaeldstad, Alexander Wieck, Gane, Simon, Holbrook, Eric H, Huart, Caroline, Konstantinidis, Iordanis, Lechner, Matt, Macchi, Alberto, Portillo Mazal, Patricia, Miwa, Takaki, Philpott, Carl M., Pinto, Jayant M., Poletti, Sophia C, Vodicka, Jan, Welge-Luessen, Antje, Whitcroft, Katherine L., and Hummel, Thomas

Subjects
SMELL disorders, HALLUCINATIONS, DEFINITIONS, RESEARCH personnel, SMELL
Abstract

Background: Definitions are essential for effective communication and discourse, particularly in science. They allow the shared understanding of a thought or idea, generalization of knowledge, and comparison across scientific investigation. The current terms describing olfactory dysfunction are vague and overlapping. Summary: As a group of clinical olfactory researchers, we propose the standardization of the terms "dysosmia," "anosmia," "hyposmia," "normosmia," "hyperosmia," "olfactory intolerance," "parosmia," and "phantosmia" (or "olfactory hallucination") in olfaction-related communication, with specific definitions in this text. Key Messages: The words included in this paper were determined as those which are most frequently used in the context of olfactory function and dysfunction, in both clinical and research settings. Despite widespread use in publications, however, there still exists some disagreement in the literature regarding the definitions of terms related to olfaction. Multiple overlapping and imprecise terms that are currently in use are confusing and hinder clarity and universal understanding of these concepts. There is a pressing need to have a unified agreement on the definitions of these olfactory terms by researchers working in the field of chemosensory sciences. With the increased interest in olfaction, precise use of these terms will improve the ability to integrate and advance knowledge in this field. [ABSTRACT FROM AUTHOR]

Published
2023
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9. Investigation of olfactory function and its plasticity

Author

Hummel, Thomas, Welge Luessen, Antje, Technische Universität Dresden, Joshi, Akshita, Hummel, Thomas, Welge Luessen, Antje, Technische Universität Dresden, and Joshi, Akshita

Abstract

Hintergrund: Der Geruchssinn spielt eine wichtige Rolle in unserem täglichen Leben, während sein Fehlen erhebliche Auswirkungen auf das Leben von Menschen mit Geruchsstörungen hat, einschließlich Veränderungen in ihrer geistigen, sozialen und körperlichen Gesundheit. Der Verlust des Geruchssinns kann eine Vorstufe zu schweren neurodegenerativen Erkrankungen wie Parkinson und Alzheimer sein, und kann mit depressiven Symptomen einhergehen. Daher sollten Menschen mit Riechverlust adäquat untersucht und behandelt werden. In den drei zu einer Arbeit zusammengefassten Veröffentlichungen wurde die MRT zur Untersuchung der Riechfunktion und ihrer Plastizität eingesetzt, vor allem bei Patienten mit Riechstörungen. Publikation 1 befasste sich mit der Verbesserung bestehender Methoden zur Bewertung des Volumens des Bulbus olfactorius (OB) hinsichtlich der strukturellen Bewertung der Riechfunktion. Publikation 2 befasste sich mit der funktionellen Plastizität des olfaktorischen Systems bei Patienten mit angeborener und erworbener Anosmie, wenn der olfaktorische Input fehlt. Publikation 3 befasste sich mit der Plastizität des chemosensorischen Systems am Beispiel der gewohnheitsmäßigen Exposition zu trigeminalen Gerüchen. Methoden: In Publikation 1 wurden 52 Probanden einer 3-T-MRT Untersuchung des Gehirns unterzogen. Alle Probanden wurden mit der 'Sniffin' Sticks'-Testbatterie auf ihre orthonasale Riechfunktion hin getestet. Mit Hilfe der AMIRA®-Software berechneten zwei geschulte Beobachter das OB-Volumen mit einem manuellen Segmentierungsverfahren, der planimetrischen manuellen Konturierung (PMC) (Fläche in mm3). Mit ITK-SNAP®-Software verwendeten die gleichen Beobachter die neue Methode 'box-frame' zur Berechnung des OB-Volumens. Zunächst wurde die Anzahl der Schichten (Länge) mit deutlicher Erkennbarkeit des OB notiert. Bei der Box-Methode wurde angenommen, dass Höhe und Breite der Markierungen in einem Winkel von 90° zueinander stehen. Das Volumen wurde als Vielfaches von

Published
2023

11. Single‐use device endoscopy for the diagnosis of acute bacterial rhinosinusitis in primary care: A pilot and feasibility study

Author

Antje Welge-Luessen Lemcke, Jürg Vogt, Heiner C. Bucher, Andreas Zeller, Bernhard Schaller, Dominik Glinz, Jens Georg Hansen, Patrick Doerig, Caroline Trutmann, Andreas Marti, Katharina Leitmeyer, and Claus Diermayr

Subjects
Male, Nasal cavity, medicine.medical_specialty, Meatus, Microbiological culture, Pilot Projects, antibiotics, primary care, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Otoscope, endoscopy, Sinusitis, 030223 otorhinolaryngology, Adverse effect, rhinosinusitis, Rhinitis, Endoscopes, Primary Health Care, medicine.diagnostic_test, business.industry, Equipment Design, Endoscopy, medicine.anatomical_structure, Paranasal sinuses, Otorhinolaryngology, 030220 oncology & carcinogenesis, Feasibility Studies, Female, Sample collection, business, Switzerland
Abstract

Objective: Antibiotics are largely overprescribed for acute rhinosinusitis in primary care, mainly due to the lack of diagnostic tests to confirm or rule out bacterial infection. The study objective was to assess the on-site applicability and safety of the newly developed JGG endoscope® for the diagnosis of acute bacterial rhinosinusitis in primary care. Design: Five Swiss primary care centres and one university-affiliated ENT unit participated in this single-arm pilot study. Participants: Adults with acute suspected bacterial rhinosinusitis. The newly developed JGG endoscope®, which is attached to a pocket otoscope, was used to inspect after local anaesthesia the nasal cavity and middle meatus and to gain material for bacterial culture from paranasal sinuses draining ostium. Main outcome measures: Applicability and safety. Results: The visualisation of the middle meatus was successful in 16 of 21 patients (13 in both sides and three in one side), and unclear or unsuccessful in five patients. Sample collection from the middle meatus was successful in 10 patients (six on both and four on one side) and unclear or unsuccessful in the remaining patients. Only one culture-confirmed bacterial rhinosinusitis and 11 PCR-confirmed viral infections were identified from collected samples. After a 2-week follow-up, no serious adverse events were observed. Conclusions: The on-site use of the JGG endoscope® in daily primary care routine is feasible and safe and was well accepted by the trial physicians and patients (assessed with structured questionnaires). The JGG endoscope® may support general practitioners to differentiate between bacterial and viral rhinosinusitis.

Published
2021

13. Systemic corticosteroids in coronavirus disease 2019 (COVID‐19)‐related smell dysfunction: an international view

Author

Johannes Frasnelli, Sophia C. Poletti, Iordanis Konstantinidis, Philippe Rombaux, Christian A. Mueller, Thomas Hummel, Antje Welge-Luessen, Caroline Huart, Katherine L. Whitcroft, Simon Gane, Jan Vodička, Jayant M. Pinto, Basile Nicolas Landis, Alexander Fjaeldstad, Eric H. Holbrook, Carl Philpott, Aytug Altundag, Julien W. Hsieh, Alberto Macchi, Simona Negoias, Vijay R. Ramakrishnan, Tıp Fakültesi, UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (SLuc) Service d'oto-rhino-laryngologie

Subjects
medicine.medical_specialty, 2019-20 coronavirus outbreak, Drug-Related Side Effects and Adverse Reactions, Coronavirus disease 2019 (COVID-19), Medication Therapy Management, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Remission, Spontaneous, Spontaneous recovery, Spontaneous remission, olfaction disorder, Global Health, SARS‐CoV‐2, corticosteroids, Olfaction Disorders, 03 medical and health sciences, Viewpoint, 0302 clinical medicine, Olfactory Mucosa, COVID‐19, Adrenal Cortex Hormones, Olfaction Disorder, smell, medicine, Humans, Corticosteroids, Immunology and Allergy, 030223 otorhinolaryngology, Adverse effect, Intensive care medicine, SARS-CoV-2, business.industry, COVID-19, Smell, 030228 respiratory system, Otorhinolaryngology, Research Design, business, Needs Assessment
Abstract

Summary The frequent association between coronavirus disease 2019 (COVID‐19) and olfactory dysfunction is creating an unprecedented demand for a treatment of the olfactory loss. Systemic corticosteroids have been considered as a therapeutic option. However, based on current literature, we call for caution using these treatments in early COVID‐19–related olfactory dysfunction because: (1) evidence supporting their usefulness is weak; (2) the rate of spontaneous recovery of COVID‐19–related olfactory dysfunction is high; and (3) corticosteroids have well‐known potential adverse effects. We encourage randomized placebo‐controlled trials investigating the efficacy of systemic steroids in this indication and strongly emphasize to initially consider smell training, which is supported by a robust evidence base and has no known side effects.

Published
2021

20. Single‐use device endoscopy for the diagnosis of acute bacterial rhinosinusitis in primary care: A pilot and feasibility study

Author

Glinz, Dominik, primary, Georg Hansen, Jens, additional, Trutmann, Caroline, additional, Schaller, Bernhard, additional, Vogt, Jürg, additional, Diermayr, Claus, additional, Marti, Andreas, additional, Leitmeyer, Katharina, additional, Doerig, Patrick, additional, Zeller, Andreas, additional, Welge‐Luessen Lemcke, Antje, additional, and Bucher, Heiner C., additional

Published
2021
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22. Association between olfactory function and quality of life in patients with olfactory disorders: a multicenter study in over 760 participants

Author

Zou, Lai-Quan, Hummel, Thomas, Otte, Martin S., Bitter, Thomas, Besser, Gerold, Mueller, Christian A., Welge-Luessen, Antje, Bulut, Olcay Cem, Goektas, Oender, Negoias, Simona, Li, Shu-bin, Haehner, Antje, Zou, Lai-Quan, Hummel, Thomas, Otte, Martin S., Bitter, Thomas, Besser, Gerold, Mueller, Christian A., Welge-Luessen, Antje, Bulut, Olcay Cem, Goektas, Oender, Negoias, Simona, Li, Shu-bin, and Haehner, Antje

Abstract

Background: This cross-sectional, multi-centric study aimed to investigate the differences in quality of life among patients with olfactory dysfunction (OD) of different origin, and to identify factors associated with olfactory-related quality of life (QOL). Methods: Seven hundred sixty-three adults were recruited from 8 Smell & Taste clinics in Germany, Switzerland, and Austria. Olfactory-related QOL was assessed by the Questionnaire of Olfactory Disorders (QOD). Olfactory function was assessed with the Sniffin' Sticks test; self-assessment was performed with visual analog scales. Results: Patients with post-infectious and post-traumatic OD showed poorer olfactory-related QOL than patients with sinonasal and idiopathic OD. The olfactory-related QOL was positively associated with the Sniffin' Sticks test score, self-assessed olfactory function, disease duration, and age, with younger olfactory dysfunction patients showing lower QOL. Female patients presented with poorer olfactory-related QOL. In addition, the results showed that self-assessment of olfactory function explained more of the variance in olfactory-related QOL than olfactory function evaluated by the Sniffin' Sticks test. Conclusions: In addition to the psychophysical testing results, several factors such as disease cause, disease duration, sex, or self-assessed olfactory dysfunction should be taken into account when assessing the individual severity of the smell loss.

Published
2021

24. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Daniele Cusi, Etsuo Chihara, Leyla Al-Jasim, Ya Xing Wang, Tero Kivelä, Jinghong Sang, Adeyinka O. Ashaye, Bowen Zhao, Tan Do, Susanne Moebus, Ursula Schlötzer-Schrehardt, Shamira A. Perera, Augustine W O Cheong, Afsaneh Naderi Beni, Francisco A. Escudero-Domínguez, Yoshiaki Kiuchi, Tomomi Higashide, DS Klobassa, Friedrich E. Kruse, Nicole Weisschuh, Chunyan Qiao, Muhammad Imran Khan, Martin L. Hibberd, Arthur J. Sit, Jamie E Craig, Akitoshi Yoshida, Periasamy Sundaresan, Humaira Ayub, Kathryn P. Burdon, Jonathan G Crowston, Kazunori Miyata, Marisa Cruz-Aguilar, Markus M. Nöthen, Hasnaa Lamari, Michael A. Hauser, Louis R. Pasquale, Anneke I. den Hollander, Eija Vesti, Ursula Hoja, Raphael Q Soh, Burcu Kasım, Adeola O Onakoya, Rachel W. Kuchtey, Eugeny L. Akopov, Liang Xu, Juan Carlos Zenteno, Chaiwat Teekhasaenee, Saleh A. Al-Obeidan, Eleftherios Anastasopoulos, Anita S Y Chan, Nagahisa Yoshimura, John Kuchtey, Naris Kitnarong, Yaan Fun Chong, Boonsong Wanichwecharugruang, R.R. Fayzrakhmanov, Paul Mitchell, N Kalpana, Unnur Thorsteinsdottir, Kei Tashiro, Rajesh Kumar, Jin Wook Jeoung, Deepak P. Edward, Frederico Martinon-Torres, Bilge Batu, Anavaj Sakuntabhai, Robert N. Weinreb, Héctor González-Iglesias, Sasan Moghimi, Jia Nee Foo, Nkechi J Uche, Karen Curtin, Kenji Inoue, Lingam Vijaya, Makoto Aihara, Dilek Aktas, Norimoto Gotoh, Wasu Supakontanasan, Laura Dallorto, Takako Sugimoto, Jonathan L. Haines, Olusola Olawoye, Janey L. Wiggs, Sripriya Sarangapani, Craig J. Chaya, Theofanis Pappas, Fotis Topouzis, Eranga N. Vithana, Steffen Heegaard, Fridbert Jonasson, Kazuhiko Mori, Idakwo Ugbede, Hongyan Jia, Anthi Chatzikyriakidou, Robert P. Igo, Soon Cheol Cha, Yueming Chen, Su-Ling Ho, Zhenglin Yang, Jost B. Jonas, Francesca Pasutto, Ken Hayashi, Rahat Husain, Georg Mossböck, S Fabian Lerner, R. Rand Allingham, Priti Sahay, Fumihiko Matsuda, Yanin Suwan, Teresa Rolle, Robert Ritch, Peter Kraft, Trevor R. Carmichael, Kar Seng Sim, Raheel Qamar, Gordana Sunaric Megevand, Tomasz Zarnowski, Shazia Micheal, Scott Thomas, Paolo Frezzotti, Vera Vysochinskaya, Linda M. Zangwill, Alina Popa Cherecheanu, Tin Aung, Jessica N. Cooke Bailey, Kyu Hyung Park, Edward Dervan, Suhanya Okeke, Pablo Fornero, Sidi M Ezzouhairi, Pascal Reynier, Gudmar Thorleifsson, Michael V. Dubina, Kazuhisa Sugiyama, Sylvain Roy, Per Kappelgaard, Mineo Ozaki, Vijayan Saravanan, Carlo Lavia, Wenda L. Greer, Takanori Mizoguchi, Alireza Lashay, A. Binder, Daniel Berner, Su Qin Peh, Balram Chowbay, Nino Kobakhidze, Ifeoma N. Asimadu, Delia Sivori, Gopalakrishnan Prakadeeswari, Alexandros Lambropoulos, Michael Coote, Sergei Y. Astakhov, Shahin Yazdani, Dan Milea, Montserrat García, Lydia Álvarez, Kenji Yamashiro, Soumya Raychaudhuri, Pratap Challa, Aparna Rao, Jae H. Kang, Khai Koon Heng, Richard K. Lee, Tien Yin Wong, Alex W. Hewitt, Yoko Ikeda, Kessara Pathanapitoon, Panayiota Founti, Daniella Bach-Holm, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michèle Ramsay, Nkiru Kizor-Akaraiwe, Yosai Mori, Antonio Maria Fea, Chandrashekaran Shivkumar, Xiao Yu Ng, Jie Jin Wang, Erika Salvi, Giang T T Nguyn, Steffen Uebe, Tamara Zompa, Anne L. Coleman, Werner Zenz, Min Sagong, Luis Fernández-Vega Cueto, Farah Akhtar, Susan Williams, Sarah C. Nelson, Bradford J. Shingleton, Ryuichi Ideta, Leon W. Herndon, Zheng Li, Murat Irkec, M. Roy Wilson, Ewa Kosior-Jarecka, Christian Y. Mardin, Mozhgan Rezaei Kanavi, Tsutomu Ohashi, Abderrahman Rafei, Rengaraj Venkatesh, Stefan Herms, George Chichua, Mohammad Pakravan, Robyn M. Rautenbach, Shi Qi Mok, Trình V Nguyn, Patricio G. Schlottmann, Nassim Khatibi, Daniel Gaston, Masaru Inatani, Morio Ueno, Mukharram M. Bikbov, Eoin Silke, Homa Naderifar, Linda Hansapinyo, Paolo Manunta, Z. Xie, Urszula Lukasik, Eray Atalay, Lulin Huang, Xuyang Liu, Chie Sotozono, Shuang Ru Goh, John H. Fingert, Richard A. Mills, Khaled K. Abu-Amero, Xiao Yin Chen, Matthias Zenkel, Sergo Tabagari, Irma Järvelä, Xueyi Chen, Stéphanie Leruez, Yury S. Astakhov, Sonia Davila, Yildirim Nilgün, Ronnie George, Shin-ichi Manabe, Miguel Coca-Prados, Masahiro Miyake, Ignacio Lischinsky, Rogelio González-Sarmiento, Arkasubhra Ghosh, A. Emelyanov, Çilingir Oguz, Masakazu Nakano, Rohit Shetty, Karen Bedard, Toshiya Sakurai, Yutao Liu, Barbara M Wirostko, Hui Zhang, Ulrich-Christoph Welge-Luessen, Toshiaki Kubota, Vania Castro, Hip X Nguyn, Liyun Jia, Ari Ziskind, Hideki Chuman, Andrew C. Orr, Satoko Nakano, Daniela Paoli, Masahide Yanagi, Aravind Haripriya, Kari Stefansson, Pedro Pablo Rodríguez-Calvo, Hui Meng Soo, Chiea Chuen Khor, Gyulli M. Kazakbaeva, Osvaldo Cuello, Mei Chin Lee, Ki Ho Park, Natalia Porporato, Lourdes de Juan Marcos, Ching-Yu Cheng, Shigeyasu Kazama, Shigeru Kinoshita, Axel M. Hillmer, Alan S. Crandall, Victor H. K. Yong, Ohoud Owaidhah, Rodolfo Perez Grossmann, Jeeyun Ahn, André Reis, Nevbahar Tamçelik, Satoshi Ishiko, Antonio Salas, Ningli Wang, Singapore Eye Research Institute [Singapore] (SERI), Ozaki Eye Hospital [Miyazaki], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), deCODE genetics [Reykjavik], Mizoguchi Eye Hospital [Sasebo], Case Western Reserve University [Cleveland], Aravind Eye Hospital [Madurai, India], University of the Witwatersrand [Johannesburg] (WITS), Pavlov First Saint Petersburg State Medical University [St. Petersburg], Dalhousie University [Halifax], Flinders University [Adelaide, Australia], Kyoto Prefectural University of Medicine [Kyoto, Japon], King Saud University [Riyadh] (KSU), Genome Institute of Singapore (GIS), Aravind Medical Research Foundation (AMRF), Université de Médecine Carol Davila, Harvard Medical School [Boston] (HMS), University of Washington [Seattle], Hayashi Eye Hospital [Fukuoka], Shinjo Eye Clinic [Nagoya], Medical University of Lublin, Inoue Eye Hospital [Tokyo], Hacettepe University = Hacettepe Üniversitesi, Universidad de Oviedo [Oviedo], Kanazawa University (KU), Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Organizacion Medica de Investigacion (OMI BUENOS AIRES), Fundacion para el Estudio del Glaucoma [Buenos Aires], Chercheur indépendant, Eskisehir Osmangazi University, Ufa Eye Research Institute [Bashkortostan], Seoul National University Hospital, Yeungnam University [South Korea], Kyoto University, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Universität Heidelberg [Heidelberg] = Heidelberg University, Birla Institute of Scientific Research (BISR), B. M. Birla Science and Technology Center, Faculty of Computer Science, Department of Pathology and Immunology, Geneva University Hospital (HUG), Key Laboratory for Information System Security, ministry of education, Numerical modeling and high performance computing for evolution problems in complex domains and heterogeneous media (NACHOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (LJAD), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institute of Human Genetics [Erlangen, Allemagne], Department of Ophthalmology, School of Medicine [Thessaloniki, Grèce], Aristotle University of Thessaloniki, Università degli Studi di Siena = University of Siena (UNISI), Department of Medicine, Surgery, and Dentistry, University of Milano, Japan Advanced Institute of Science and Technology (JAIST), Etudes génomiques trans-ethniques des maladies multifactorielles, Kyoto University-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Archaeogenetics Laboratory, Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Kentucky (UK), Helsinki University Eye Hospital, Turku University Hospital, Turku, Finland, COMSATS Institute of Information Technology (CIIT), Department of Epidemiology, Harvard School of Public Health, University of Miami Leonard M. Miller School of Medicine (UMMSM), Brigham and Women's Hospital [Boston], Department of Neuroscience and Pharmacology, Section of Eye Pathology, University of Copenhagen, University of Copenhagen = Københavns Universitet (UCPH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of California [San Diego] (UC San Diego), University of California (UC), University of Iceland [Reykjavik], New York Eye and Ear Infirmary of Mount Sinai [New York] (NYEE), Oita University Faculty of Medicine [Oita, Japon], Radboud University Medical Center [Nijmegen], Oogheelkunde, RS: FHML non-thematic output, Kyoto University [Kyoto], Universidad Nacional Autónoma de México (UNAM), Universität Heidelberg [Heidelberg], Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (JAD), Dipartimento di Scienze oftalmologiche e Neurochirurgiche, Universita' degli Studi di Siena, Siena, Kyoto University [Kyoto]-Institut National de la Santé et de la Recherche Médicale (INSERM), Rothschild Hospital, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of Kentucky, University of Copenhagen = Københavns Universitet (KU), University of California, Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P, Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S, Orr, Andrew C, Burdon, Kathryn P, Nakano, Satoko, Mori, Kazuhiko, Abu Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C, Jonas, Jost B, Kumar, Rajesh S, Perera, Shamira A, Chan, Anita S. Y, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P, de Juan Marcos, Lourde, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthia, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge Luessen, Ulrich Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofani, Anastasopoulos, Eleftherio, Lambropoulos, Alexandro, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz Aguilar, Marisa, Ezzouhairi, Sidi M, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K, Khan, Muhammad Imran, Olawoye, Olusola O, Ashaye, Adeyinka O, Ugbede, Idakwo, Onakoya, Adeola, Kizor Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Grossmann, Rodolfo Perez, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W, Coote, Michael, Crowston, Jonathan G, Astakhov, Sergei Y, Akopov, Eugeny L, Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al Obeidan, Saleh A, Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O, Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su Ling, Hillmer, Axel M, Cheng, Ching Yu, Escudero Domínguez, Francisco A, González Sarmiento, Rogelio, Martinon Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Nari, Sakuntabhai, Anavaj, Nguyn, Hip X, Nguyn, Giang T. T, Nguyn, Trình V, Zenz, Werner, Binder, Alexander, Klobassa, Daniela S, Hibberd, Martin L, Davila, Sonia, Herms, Stefan, Nöthen, Markus M, Moebus, Susanne, Rautenbach, Robyn M, Ziskind, Ari, Carmichael, Trevor R, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González Iglesias, Héctor, Rodríguez Calvo, Pedro P, Cueto, Luis Fernández Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasım, Burcu, Wilson, M. Roy, Coleman, Anne L, Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W, Kuchtey, John, Curtin, Karen, Chaya, Craig J, Crandall, Alan, Zangwill, Linda M, Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I, Vesti, Eija, Fingert, John H, Lee, Richard K, Sit, Arthur J, Shingleton, Bradford J, Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak Vance, Margaret A, Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich E, Weinreb, Robert N, Pasquale, Louis R, Haines, Jonathan L, Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N, Micheal, Shazia, Topouzis, Foti, Craig, Jamie E, Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L, Pasutto, Francesca, Khor, Chiea Chuen, University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], and University of Helsinki

Subjects
0301 basic medicine, Male, Calcium Channels/genetics, Messenger, Medizin, PSEUDOEXFOLIATION SYNDROME, Genome-wide association study, BLOOD-PRESSURE, Disease, Exfoliation Syndrome, Eye, Exfoliation Syndrome/ethnology/genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, PARKINSONS-DISEASE, 80 and over, ta319, Missense mutation, Genetics, Aged, 80 and over, Amino Acid Oxidoreductases/genetics/physiology, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian Continental Ancestry Group, Calcium Channels, Cell Adhesion, Extracellular Matrix, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Haplotypes, Humans, Molecular Chaperones, RNA, Messenger, Spheroids, Cellular, Genome-Wide Association Study, Mutation, Missense, Point Mutation, Metaanalysis, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, ALZHEIMERS-DISEASE, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Molecular Chaperones/biosynthesis/genetics, Biology, SYNONYMOUS MUTATIONS, ta3111, Article, 03 medical and health sciences, Asian People, Asian Continental Ancestry Group/genetics, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Allele, Risk factor, GENOME-WIDE ASSOCIATION, Eye/metabolism, Aged, Genetic association, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Haplotype, Individuals, Glaucoma, Odds ratio, Extracellular Matrix/metabolism, RNA, Messenger/biosynthesis, MACULAR DEGENERATION, RISK LOCI, eye diseases, COMMON SEQUENCE VARIANTS, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, 030221 ophthalmology & optometry, RNA, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Cellular, Spheroids, Missense, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Polymorphisms, purl.org/pe-repo/ocde/ford#1.06.07 [https], INFLAMMATORY-BOWEL-DISEASE
Abstract

International audience; Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations,and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR= 25, P=2.9 x 10-14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 x 10-8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017

33. Diagnostics and treatment of olfactory dysfunction

Author

Damm, M., Schmitl, L., Mueller, C. A., Welge-Luessen, A., Hummel, T., Damm, M., Schmitl, L., Mueller, C. A., Welge-Luessen, A., and Hummel, T.

Abstract

ZusammenfassungHintergrundDysosmien zahlen zu den haufigsten Storungen/Erkrankungen im HNO-Fachgebiet, epidemiologische Daten fehlen weitgehend, und die Therapiestrategien sind unzureichend standardisiert.FragestellungErhebung der Ursachen von Riechstorungen und den angewendeten Behandlungsstrategien an HNO-Kliniken im deutschsprachigen Raum. Auswertung und Vergleich mit den Ergebnissen aus der Umfrage im Jahr 2000 und Durchfuhrung einer Literaturanalyse zur Therapie von Riechstorungen.Material und MethodenDie Umfrage erfolgte 2010 mit einem zweiseitigen Fragebogen zu Riechstorungen, der an alle HNO-Kliniken im deutschsprachigen Raum verschickt wurde. Die Analyse schloss die Literatur aus PubMed, der Cochrane Library sowie themenrelevanten Leitlinien ein.ErgebnisseAn HNO-Kliniken wurde die Diagnose Dysosmie seltener gestellt (Ruckgang um 52%) Die 3am haufigsten genannten Therapieansatze waren Kortikosteroide (topisch und systemisch) und systemische Antibiotika. Bei sinunasalen Dysosmien zeigte sich in der Literaturanalyse ein kleiner bis mittlerer Effekt von topischen Steroiden.SchlussfolgerungDa eine Halbierung der Pravalenz von Riechstorungen unwahrscheinlich ist, beruht die geringere Patientenzahl moglicherweise auf einer kritischeren Diagnostik. Die Anwendung des Riechtrainings hat in den Kliniken stark zugenommen (von <6% auf 29%). Der Einsatz von topischen Steroiden bei der Behandlung von sinunasalen Dysosmien ist evidenzbasiert. Das Riechtraining stellt besonders bei postinfektiosen und posttraumatischen Riechstorungen eine sichere und effektive Therapieoption dar. AbstractBackgroundDysosmia is one of the most common disorders in otorhinolaryngology. However, epidemiological data are lacking and treatment strategies are insufficiently standardized.ObjectiveThe aim of this study was to evaluate the frequency of causes of olfactory disorders and the different therapeutic approaches used in ENT departments in German-speaking countries. The results were also comp

Published
2019

37. In Vitro Study of the Deturgescence Ability of Cultivated Human Corneal Endothelial Cells

Author

Stavros A. Dimitrakos, Konstantinos T. Tsaousis, Friedrich E. Kruse, Ioannis Tsinopoulos, Ulrich Welge-Luessen, and Nikolaos Kopsachilis

Subjects
0301 basic medicine, medicine.medical_specialty, Models, Biological, Collagen Type I, 03 medical and health sciences, 0302 clinical medicine, Tissue engineering, Stroma, Ophthalmology, Cornea, medicine, Humans, In vitro study, Increased thickness, Cells, Cultured, Dehydration, Tissue Engineering, Tissue Scaffolds, Chemistry, Corneal Diseases, Endothelium, Corneal, Membranes, Artificial, eye diseases, 030104 developmental biology, medicine.anatomical_structure, Membrane, 030221 ophthalmology & optometry, Control set, sense organs, Tomography, Optical Coherence
Abstract

PURPOSE To evaluate the efficiency of cultivated human corneal endothelial cells (HCECs) to dehydrate the cornea, using models of the posterior cornea, composed of artificial collagen mass (to represent corneal stroma) and equine collagen membranes (to represent Descemet membrane). METHODS HCECs were isolated from donor corneal rings and cultivated at 37°C in 5% CO2 and 95% humidified air. The study design included 4 different sets of models: in set 1, the HCECs were placed directly on the collagen mass complex; in set 2, HCECs were placed on a thin equine collagen membrane and laid over the collagen mass; in set 3, HCECs were placed on a thick equine collagen membrane laid over the collagen mass; and in set 4 (the control group), the hydrophilic collagen mass was left alone to interact with the nutritional medium. The minimum thickness of each sample was measured with optical coherence tomography directly before placement of cells and after exposure to the nutritional fluid for 48 hours. RESULTS After 2 days of exposure to the nutritional medium, the percentage decreases in thickness in "posterior cornea" models were 66% for set 1, 57% for set 2, and 13% set 3. In the control set, measurement of thickness after 2 days of exposure was not possible because of excessive fluid absorption. CONCLUSIONS This in vitro study of HCECs showed that the dehydrating ability of HCECs is adversely affected by increased thickness of the artificial (Descemet) membrane. Further studies with similar models would aid better understanding of corneal diseases.

Published
2016

39. 'Taste Strips' - A rapid, lateralized, gustatory bedside identification test based on impregnated filter papers

Author

Basile Nicolas Landis, Thomas Hummel, Mats Bende, Christian A. Mueller, Antje Welge-Luessen, Annika Brämerson, and Steven Nordin

Subjects
Adult, Male, Paper, Aging, Taste, Time Factors, Adolescent, genetic structures, Point-of-Care Systems, Taste Disorders/*diagnosis/physiopathology, Taste test, Taste/*physiology, Functional Laterality, Functional Laterality/physiology, Taste Disorders, Young Adult, Predictive Value of Tests, Reference Values, Psychophysics, Humans, Aged, Aged, 80 and over, Sex Characteristics, Psychophysics/methods, Reproducibility of Results, Middle Aged, Aging/physiology, ddc:616.8, Test (assessment), Neurology, Reference values, Taste function, Neurology (clinical), Psychology, Point-of-Care Systems/*trends, Neuroscience
Abstract

Objective : To elaborate normative values for a clinical psychophysical taste test ("Taste Strips”). Background : The "Taste Strips” are a psychophysical chemical taste test. So far, no definitive normative data had been published and only a fairly small sample size has been investigated. In light of this shortcoming for this easy, reliable and quick taste testing device, we attempted to provide normative values suitable for the clinical use. Setting : Normative value acquisition study, multicenter study. Methods : The investigation involved 537 participants reporting a normal sense of smell and taste (318 female, 219 male, mean age 44 years, age range 18-87 years). The taste test was based on spoonshaped filter paper strips ("Taste Strips”) impregnated with the four (sweet, sour, salty, and bitter) taste qualities in four different concentrations. The strips were placed on the left or right side of the anterior third of the extended tongue, resulting in a total of 32 trials. With their tongue still extended, patients had to identify the taste from a list of four descriptors, i. e., sweet, sour, salty, and bitter (multiple forcedchoice). To obtain an impression of overall gustatory function, the number of correctly identified tastes was summed up for a "taste score”. Results : Taste function decreased significantly with age. Women exhibited significantly higher taste scores than men which was true for all age groups. The taste score at the 10th percentile was selected as a cut-off value to distinguish normogeusia from hypogeusia. Results from a small series of patients with ageusia confirmed the clinical usefulness of the proposed normative values. Conclusion : The present data provide normative values for the "Taste Strips” based on over 500 subjects tested

Published
2018

40. 'Taste Strips” - A rapid, lateralized, gustatory bedside identification test based on impregnated filter papers

Author

Landis, B., Welge-Luessen, A., Brämerson, A., Bende, M., Mueller, C., Nordin, S., Hummel, T., Landis, B., Welge-Luessen, A., Brämerson, A., Bende, M., Mueller, C., Nordin, S., and Hummel, T.

Abstract

Objective : To elaborate normative values for a clinical psychophysical taste test ("Taste Strips”). Background : The "Taste Strips” are a psychophysical chemical taste test. So far, no definitive normative data had been published and only a fairly small sample size has been investigated. In light of this shortcoming for this easy, reliable and quick taste testing device, we attempted to provide normative values suitable for the clinical use. Setting : Normative value acquisition study, multicenter study. Methods : The investigation involved 537 participants reporting a normal sense of smell and taste (318 female, 219 male, mean age 44 years, age range 18-87 years). The taste test was based on spoonshaped filter paper strips ("Taste Strips”) impregnated with the four (sweet, sour, salty, and bitter) taste qualities in four different concentrations. The strips were placed on the left or right side of the anterior third of the extended tongue, resulting in a total of 32 trials. With their tongue still extended, patients had to identify the taste from a list of four descriptors, i. e., sweet, sour, salty, and bitter (multiple forcedchoice). To obtain an impression of overall gustatory function, the number of correctly identified tastes was summed up for a "taste score”. Results : Taste function decreased significantly with age. Women exhibited significantly higher taste scores than men which was true for all age groups. The taste score at the 10th percentile was selected as a cut-off value to distinguish normogeusia from hypogeusia. Results from a small series of patients with ageusia confirmed the clinical usefulness of the proposed normative values. Conclusion : The present data provide normative values for the "Taste Strips” based on over 500 subjects tested

Published
2018

41. Position paper on olfactory dysfunction

Author

Hummel, T., Whitcroft, K. L., Andrews, P., Altundags, A., Cinghi, C., Costanzo, R. M., Damm, M., Frasnelli, J., Gudziol, H., Gupta, N., Haehner, A., Holbrook, E., Hong, S. C., Hornung, D., Huetenbrink, K. B., Kamel', R., Kobayashi, M., Konstantinidis, I., Landis', B. N., Leopold, D. A., Macchi, A., Miwa, T., Moesges, R., Mullol, J., Mueller, C. A., Ottaviano, G., Passali, G. C., Philpott, C., Pinto, J. M., Ramakrishnan, V. J., Rombaux, P., Roth, Y., Schlosser, R. A., Shu, B., Soler, G., Stjarne, P., Stuck, B. A., Vodička, Jan, Welge-Luessen, A., Hummel, T., Whitcroft, K. L., Andrews, P., Altundags, A., Cinghi, C., Costanzo, R. M., Damm, M., Frasnelli, J., Gudziol, H., Gupta, N., Haehner, A., Holbrook, E., Hong, S. C., Hornung, D., Huetenbrink, K. B., Kamel', R., Kobayashi, M., Konstantinidis, I., Landis', B. N., Leopold, D. A., Macchi, A., Miwa, T., Moesges, R., Mullol, J., Mueller, C. A., Ottaviano, G., Passali, G. C., Philpott, C., Pinto, J. M., Ramakrishnan, V. J., Rombaux, P., Roth, Y., Schlosser, R. A., Shu, B., Soler, G., Stjarne, P., Stuck, B. A., Vodička, Jan, and Welge-Luessen, A.

Abstract

Background: Olfactory dysfunction is an increasingly recognised condition, associated with reduced quality of life and major health outcomes such as neurodegeneration and death. However, translational research in this field is limited by heterogeneity in methodological approach, including definitions of impairment, improvement and appropriate assessment techniques. Accordingly, effective treatments for smell loss are limited. In an effort to encourage high quality and comparable work in this field, among others, we propose the following ideas and recommendations. Whilst the full set of recommendations are outlined in the main document, points include the following: Patients with suspected olfactory loss should undergo a full examination of the head and neck, including rigid nasal endoscopy with small diameter endoscopes. Subjective olfactory assessment should not be undertaken in isolation, given its poor reliability. Psychophysical assessment tools used in clinical and research settings should include reliable and validated tests of odour threshold, and/or one of odour identification or discrimination. Comprehensive chemosensory assessment should include gustatory screening. Smell training can be helpful in patients with olfactory loss of several aetiologies. Conclusions: We hope the current manuscript will encourage clinicians and researchers to adopt a common language, and in so doing, increase the methodological quality, consistency and generalisability of work in this field., Poruchy čichu jsou stále četnější, spojeny se zhoršenou kvalitou života a zdravotními obtížemi, jako jsou neurogenerativní nemoci a smrt. Bohužel je výzkum omezen pro rozdílné metodické postupy, rozdílné definice, odpovídající hodnocení čichu. Účinná léčba poruch čichu je omezená. Ke zlepšení a podpoře vysoké kvality a podpoře práce v této oblasti navrhujeme následující myšlenky a doporučení. Pacienti s podezřením na poruchu čichu mají podstoupit plné vyšetření ORL lékařem včetně endonazálního vyšetření optikou. Subjektivní hodnocení čichu nesmí být bráno samostatně pro slabou výpovědní hodnotu. Psychofyzikální testy slouží v klinické a výzkumné části, mají být validizovány a vužívat práh, identifikaci a diskriminaci. Celkové vyšetření chemosenzorické percepce má obsahovat screening chuti. Čichový trénink může pomoci u pacientů s poruchou čichu různých etiologií. Závěr: Věříme, že dokument podpoří klinické a vědecké pracovníky k využití s cílem najít společný jazyk a tím zvýšit kvalitu metodiky, konzistence a zobecnění práce v této oblasti.

Published
2018

42. Mental body transformation deficits in patients with chronic balance disorders

Author

Antje Welge-Luessen, D.A. Schmid, M. Sleptsova, C.L. Biner, John H. J. Allum, C. Maguire, T.H. Schatz, Wolf Langewitz, and Flurin Honegger

Subjects
Adult, Male, medicine.medical_specialty, media_common.quotation_subject, Movement, Dizziness, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Cognition, medicine, Body Image, Humans, 0501 psychology and cognitive sciences, Latency (engineering), Gait, Postural Balance, Balance (ability), media_common, Aged, business.industry, General Neuroscience, 05 social sciences, Balance disorders, Neuropsychology, Reflex, Vestibulo-Ocular, Middle Aged, Trunk, Sensory Systems, Otorhinolaryngology, Body schema, Feeling, Vestibular Diseases, Chronic Disease, Imagination, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Clinical psychology
Abstract

BACKGROUND Movements may be generated consistent with imagining one's own body transformed or "disembodied" to a new position. Based on this concept we hypothesized that patients with objective balance deficits (obj-BD) would have altered neural transformation processes executing own body transformation (OBT) with functional consequences on balance control. Also we examined whether feeling unstable due to dizziness only (DO), without an obj-BD, also lead to an impaired OBT. METHODS 32 patients with chronic dizziness were tested: 16 patients with obj-BD as determined by balance control during a sequence of stance and gait tasks, 16 patients with dizziness only (DO). Patients and 9 healthy controls (HCs) were asked to replicate roll trunk movements of an instructor in a life size video: first, with spontaneously copied (SPO) or "embodied" egocentric movements (lean when the instructor leans); second, with "disembodied" or "transformed" movements (OBT) with exact replication - lean left when the instructor leans left. Onset latency of trunk roll, rise time to peak roll angle (interval), roll velocity, and amplitude were measured. RESULTS SPO movements were always mirror-imaged. OBT task latencies were significantly longer and intervals shorter than for SPO tasks (p

Published
2017

43. Nostril Differences in the Olfactory Performance in Health and Disease

Author

Johannes Frasnelli, Antje Haehner, Daphnée Poupon, Thomas Hummel, and Antje Welge-Luessen

Subjects
Olfactory system, Adult, Male, medicine.medical_specialty, Adolescent, Physiology, Nostril, Early detection, Context (language use), Sensory system, Disease, Olfaction, Audiology, Nose, 03 medical and health sciences, Behavioral Neuroscience, Olfaction Disorders, Young Adult, 0302 clinical medicine, Hyposmia, Physiology (medical), otorhinolaryngologic diseases, medicine, Humans, 030223 otorhinolaryngology, Child, Aged, Retrospective Studies, business.industry, Middle Aged, Olfactory Perception, Sensory Systems, medicine.anatomical_structure, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

In the past few decades, several olfactory tests have been developed to assess olfactory performance and detect disorders. Contrary to other sensory systems, both nostrils are usually tested together; we hypothesized that monorhinal testing may reveal side differences in sensitivity which may be useful for the diagnosis of olfactory dysfunction. Using the "Sniffin' Sticks" test, we assessed olfactory function of 458 participants (278 healthy controls, 180 hyposmic patients), one nostril after the other, with 3 different tasks. For each participant and each task, we compared the scores obtained with both nostrils, and defined the best and worst nostrils. Thus we were able to establish normative data and to define cut-off values. Our results suggest that scores obtained with the worst nostril are the most efficient in detecting an olfactory disorder. This supports the importance of monorhinal testing, as it can allow an earlier and more accurate diagnosis than birhinal testing. This may be especially useful in the context of early detection of neurodegenerative diseases.

Published
2017

44. Anosmia-A Clinical Review

Author

Veronika Schöpf, Joel D. Mainland, Antje Welge-Luessen, Valerie B. Duffy, Jeffrey R. Martens, Duncan Boak, Elbrich M. Postma, John Ngai, and Sanne Boesveldt

Subjects
Physiology, Behavioral Neuroscience, Olfaction Disorders, 0302 clinical medicine, Quality of life, stem cell regeneration, Hyposmia, genetics, 030223 otorhinolaryngology, Sensory Science and Eating Behaviour, media_common, Human Nutrition & Health, education.field_of_study, Neuronal Plasticity, treatment, Humane Voeding & Gezondheid, Biological Sciences, Prognosis, Corrigenda, Sensory Systems, Smell, Feeling, medicine.symptom, medicine.medical_specialty, media_common.quotation_subject, Population, Anosmia, Olfaction, olfactory dysfunction, 03 medical and health sciences, Rare Diseases, Clinical Research, Physiology (medical), Genetic model, medicine, Humans, education, Psychiatry, VLAG, neural reorganization, Neurology & Neurosurgery, business.industry, Neurosciences, Sensoriek en eetgedrag, Good Health and Well Being, Otorhinolaryngology, quality of life, business, Delivery of Health Care, 030217 neurology & neurosurgery, Stem Cell Transplantation
Abstract

Anosmia and hyposmia, the inability or decreased ability to smell, is estimated to afflict 3-20% of the population. Risk of olfactory dysfunction increases with old age and may also result from chronic sinonasal diseases, severe head trauma, and upper respiratory infections, or neurodegenerative diseases. These disorders impair the ability to sense warning odors in foods and the environment, as well as hinder the quality of life related to social interactions, eating, and feelings of well-being. This article reports and extends on a clinical update commencing at the 2016 Association for Chemoreception Sciences annual meeting. Included were reports from: a patient perspective on losing the sense of smell with information on Fifth Sense, a nonprofit advocacy organization for patients with olfactory disorders; an otolaryngologist's review of clinical evaluation, diagnosis, and management/treatment of anosmia; and researchers' review of recent advances in potential anosmia treatments from fundamental science, in animal, cellular, or genetic models. As limited evidence-based treatments exist for anosmia, dissemination of information on anosmia-related health risks is needed. This could include feasible and useful screening measures for olfactory dysfunction, appropriate clinical evaluation, and patient counseling to avoid harm as well as manage health and quality of life with anosmia.

Published
2017

45. Position paper on olfactory dysfunction

Author

Giulio Cesare Passali, Ioannis Konstantinidis, R Moesges, Hilmar Gudziol, Christian A. Mueller, R A Schlosser, Masayoshi Kobayashi, Yehudah Roth, Boris A. Stuck, Antje Haehner, Michael Damm, Eric H. Holbrook, Carl Philpott, V J Ramakrishnan, Philippe Rombaux, Donald A. Leopold, Reda Kamel, Jan Vodička, Seok-Chan Hong, Neelima Gupta, Johannes Frasnelli, Giancarlo Ottaviano, Alberto Macchi, Richard M. Costanzo, David E. Hornung, Takaki Miwa, K.-B. Hüttenbrink, Basile Nicolas Landis, Thomas Hummel, J Mullol, C Cinghi, Katherine L. Whitcroft, Jayant M. Pinto, Peter Andrews, B Shu, Pär Stjärne, Aytug Altundag, Antje Welge-Luessen, Graciela M. Soler, UCL - (SLuc) Service d'oto-rhino-laryngologie, and UCL - SSS/IONS/NEUR - Clinical Neuroscience

Subjects
medicine.medical_specialty, media_common.quotation_subject, definition olfactory dysfunction, MEDLINE, Medizin, Translational research, Neuropsychological Tests, olfactory dysfunction, 03 medical and health sciences, Olfaction Disorders, 0302 clinical medicine, Quality of life (healthcare), Physical medicine and rehabilitation, Event-related potential, treatment olfactory dysfunction, medicine, Olfactometry, Humans, Quality (business), guidelines, 030223 otorhinolaryngology, Reliability (statistics), media_common, business.industry, neurodegeneration, General Medicine, olfactory loss, olfactory training, Parosmia, Olfactory Perception, Surgery, ddc:616.8, methodological quality, Otorhinolaryngology, Quality of Life, Position paper, Settore MED/31 - OTORINOLARINGOIATRIA, medicine.symptom, INGLESE, business, 030217 neurology & neurosurgery
Abstract

Olfactory dysfunction is an increasingly recognised condition, associated with reduced quality of life and major health outcomes such as neurodegeneration and death. However, translational research in this field is limited by heterogeneity in methodological approach, including definitions of impairment, improvement and appropriate assessment techniques. Accordingly, effective treatments for smell loss are limited. In an effort to encourage high quality and comparable work in this field, among others, we propose the following ideas and recommendations. Whilst the full set of recommendations are outlined in the main document, points include the following: • Patients with suspected olfactory loss should undergo a full examination of the head and neck, including rigid nasal endoscopy with small diameter endoscopes. • Subjective olfactory assessment should not be undertaken in isolation, given its poor reliability. • Psychophysical assessment tools used in clinical and research settings should include reliable and validated tests of odour threshold, and/or one of odour identification or discrimination. • Comprehensive chemosensory assessment should include gustatory screening. • Smell training can be helpful in patients with olfactory loss of several aetiologies.We hope the current manuscript will encourage clinicians and researchers to adopt a common language, and in so doing, increase the methodological quality, consistency and generalisability of work in this field.

Published
2017

46. Morphological changes and viability of primary cultured human ocular trabecular meshwork cells after exposure to air

Author

Konstantinos T. Tsaousis, Nikolaos Kopsachilis, Ulrich Welge-Luessen, and Gianluca Carifi

Subjects
Cell Survival, Chemistry, Air, Petri dish, Cell Culture Techniques, General Medicine, Anatomy, Toxicology, Descemet's membrane endothelial keratoplasty, In vitro model, law.invention, Andrology, medicine.anatomical_structure, Air exposure, Trabecular Meshwork, law, medicine, Humans, sense organs, Air bubble, Trabecular meshwork, Incubation
Abstract

Purpose To investigate the possible toxic effect of air exposure for an in vitro model of primary human ocular trabecular meshwork cells (HTM). Methods HTM were isolated from five donor eyes and cultivated at 37 °C. After reaching confluence the cells were seeded on two well chamber slides. The chamber slides were turned upside down in a Petri culture dish full of culture medium and filled with air using a 5 ml syringe, starting this way the exposure of the cells to the air. Subsequently they were placed in the incubation chamber at 37 °C. Six groups of HTM cultures were set up: group 1 consisted of samples in which HTM were exposed to air for 30 min, group 2 for 1 h, group 3 for 3 h, group 4 for 6 h, group 5 for 12 h and group 6 for 24 h. Results At 3 h after exposure, the morphology of the cells was still intact, at 6 h few cells appeared deformed and exhibited characteristics of more senescent cells. At 12 h after exposure to air the HTM cells started losing their typical morphology and appeared enlarged and compromised. Viability was superior to 94% in groups 1–3 while for groups 4, 5, 6 it was 82.7%, 39.5% and 12.7% respectively. Conclusion The toxic effect of air exposure for the studied in vitro model of HTM is not significant for the time period of one to three hours. However it starts reducing viability and alternating morphology 6 h after exposure until the time period of 24 h, where the percentage of living cells is drastically decreased. Therefore, we suggest that the use of an air bubble especially in glaucomatous patients should be applied with caution.

Published
2014

47. A Novel Mechanism of UV-A and Riboflavin-Mediated Corneal Cross-linking Through Induction of Tissue Transglutaminases

Author

Konstantinos T. Tsaousis, Friedrich E. Kruse, Ioannis Tsinopoulos, Ulrich Welge-Luessen, and Nikolaos Kopsachilis

Subjects
Cell Survival, Ultraviolet Rays, Tissue transglutaminase, Corneal Stroma, Riboflavin, Blotting, Western, Corneal Keratocytes, Real-Time Polymerase Chain Reaction, Extracellular matrix, chemistry.chemical_compound, Western blot, GTP-Binding Proteins, medicine, Humans, Protein Glutamine gamma Glutamyltransferase 2, RNA, Messenger, Viability assay, Cells, Cultured, Cadaverine, Photosensitizing Agents, Transglutaminases, medicine.diagnostic_test, biology, Chemistry, Molecular biology, Fibronectins, Fibronectin, Ophthalmology, Cross-Linking Reagents, Cell culture, Biotinylation, biology.protein, Collagen
Abstract

PURPOSE Collagen cross-linking using UV-A irradiation combined with the photosensitizer riboflavin is a new technique for treating progressive keratoconus. The purposes of this study were to examine whether primary human corneal keratocytes (HCKs) are capable of expressing and secreting fibronectin and tissue transglutaminase (tTgase), an enzyme cross-linking extracellular matrix protein, and to examine whether fibronectin and tTgase are increased after the treatment of HCK cells with UV-A irradiation combined with riboflavin (RFUV-A), thus providing another possible physiological mechanism of the cross-linking pathway. METHODS Cell cultures established from HCKs were treated with 0.025% riboflavin solution and UV-A (370 nm) irradiance 3 mW/cm2 for 30 minutes. Induction of fibronectin and tTgase was investigated by immunohistochemistry, real-time polymerase chain reaction, and Western blot analysis. Cell viability was quantified by a microscopic live-dead assay. External tTgase activity was measured by the ability to form polymerized fibronectin and the incorporation of biotinylated cadaverine into fibronectin. RESULTS Treatment of cultured HCK cells with RFUV-A increased the fibronectin and tTgase messenger RNA and protein levels. This effect was not observed in cells treated with riboflavin or UV-A radiation alone. Incorporation of biotinylated cadaverine was significantly increased when HCK cells were treated with RFUV-A. CONCLUSIONS The enzymes tTgase and fibronectin are expressed by RFUV-A treatment in cultured HCK cells. This mechanism provides more information about the physiology of corneal cross-linking.

Published
2013

48. Air Toxicity for Primary Human-Cultured Corneal Endothelial Cells

Author

Ioannis Tsinopoulos, Ulrich Welge-Luessen, Konstantinos T. Tsaousis, and Nikolaos Kopsachilis

Subjects
Time Factors, Endothelium, Cell Survival, Chemistry, Hexagonal crystal system, Air, Endothelium, Corneal, Endothelial Cells, Apoptosis, Models, Biological, In vitro model, Andrology, Ophthalmology, medicine.anatomical_structure, Air exposure, Toxicity, medicine, Humans, sense organs, Cells, Cultured, Cell survival
Abstract

Purpose To investigate the possible toxic effect of air exposure for an in vitro model of primary human corneal endothelial cells (HCECs). Methods Primary HCECs were isolated from donor corneal rings and cultivated at 37°C in 5% CO2 and 95% humidified air. Six groups of HCEC cultures were set up, and 4 samples were enclosed in each group: group 1 consisted of samples in which HCECs were exposed to air for 30 minutes. Group 2 consisted of HCECs exposed to air for 1 hour, group 3 for 3 hours, group 4 for 6 hours, group 5 for 12 hours, and group 6 for 24 hours. Results Three hours after exposure, the morphology of the cells was still intact; however, a few cells within the monolayer appeared enlarged and exhibited characteristics of more senescent cells. Six hours after exposure to air, the endothelial cells started losing their typical hexagonal morphology and appeared enlarged and compromised. Viability was superior to 95% in groups 1 to 3, whereas for groups 4, 5, and 6 was 71%, 22.4%, and 6.3%, respectively. Conclusion The present study illustrates that the toxic effect of air exposure for the studied in vitro model of primary human-cultured corneal endothelial cells is not significant for the period of 3 hours, whereas after 6 hours it starts to induce major apoptotic mechanisms, leading to reduced viability until the period of 24 hours where the percentage of living cells is drastically decreased.

Published
2013

49. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author

Aung, T., Ozaki, M., Lee, M.C., Schlotzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R.P., Jr., Haripriya, A., Williams, S.E., Astakhov, Y.S., Orr, A.C., Burdon, K.P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J.N., Cherecheanu, A.P., Kang, J.H., Nelson, S., Hayashi, K., Manabe, S.I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Jarvela, I., Schlottmann, P., Lerner, S.F., Lamari, H., Nilgun, Y., Bikbov, M., Park, K.H., Cha, S.C., Yamashiro, K., Zenteno, J.C., Jonas, J.B., Kumar, R.S.S., Perera, S.A., Chan, A.S.Y., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D.P., Juan Marcos, L. de, Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W.L., Yang, Z, Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y.X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossbock, G., Weisschuh, N., Hoja, U., Welge-Luessen, U.C., Mardin, C., Founti, P., Chatzikyriakidou, A., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Ghosh, A., Shetty, R., Porporato, N., Saravanan, V., Venkatesh, R., Shivkumar, C., Kalpana, N., Sarangapani, S., Kanavi, M.R., Beni, A.N., Yazdani, S., Hollander, A.I. den, Pasutto, F., Khor, C.C., Aung, T., Ozaki, M., Lee, M.C., Schlotzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R.P., Jr., Haripriya, A., Williams, S.E., Astakhov, Y.S., Orr, A.C., Burdon, K.P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J.N., Cherecheanu, A.P., Kang, J.H., Nelson, S., Hayashi, K., Manabe, S.I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Jarvela, I., Schlottmann, P., Lerner, S.F., Lamari, H., Nilgun, Y., Bikbov, M., Park, K.H., Cha, S.C., Yamashiro, K., Zenteno, J.C., Jonas, J.B., Kumar, R.S.S., Perera, S.A., Chan, A.S.Y., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D.P., Juan Marcos, L. de, Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W.L., Yang, Z, Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y.X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossbock, G., Weisschuh, N., Hoja, U., Welge-Luessen, U.C., Mardin, C., Founti, P., Chatzikyriakidou, A., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Ghosh, A., Shetty, R., Porporato, N., Saravanan, V., Venkatesh, R., Shivkumar, C., Kalpana, N., Sarangapani, S., Kanavi, M.R., Beni, A.N., Yazdani, S., Hollander, A.I. den, Pasutto, F., and Khor, C.C.

Abstract

Item does not contain fulltext, Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 x 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 x 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Published
2017

50. Position paper on olfactory dysfunction.

Author

UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Hummel, T, Whitcroft, K L, Andrews, P, Altundag, A, Cinghi, C, Costanzo, R M, Damm, M, Frasnelli, J, Gudziol, H, Gupta, N, Haehne, A, Holbrook, E, Hong, S C, Hornung, D, Hüttenbrink, K B, Kamel, R, Kobayashi, M, Konstantinidis, I, Landis, B N, Leopold, D A, Macchi, A, Miwa, T, Moesges, R, Mullol, J, Mueller, C A, Ottaviano, G, Passali, G C, Philpott, C, Pinto, J M, Ramakrishnan, V J, Rombaux, Philippe, Roth, Y, Schlosser, R A, Shu, B, Soler, G, Stjärne, P, Stuck, B A, Vodicka, J, Welge-Luessen, A, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Hummel, T, Whitcroft, K L, Andrews, P, Altundag, A, Cinghi, C, Costanzo, R M, Damm, M, Frasnelli, J, Gudziol, H, Gupta, N, Haehne, A, Holbrook, E, Hong, S C, Hornung, D, Hüttenbrink, K B, Kamel, R, Kobayashi, M, Konstantinidis, I, Landis, B N, Leopold, D A, Macchi, A, Miwa, T, Moesges, R, Mullol, J, Mueller, C A, Ottaviano, G, Passali, G C, Philpott, C, Pinto, J M, Ramakrishnan, V J, Rombaux, Philippe, Roth, Y, Schlosser, R A, Shu, B, Soler, G, Stjärne, P, Stuck, B A, Vodicka, J, and Welge-Luessen, A

Abstract

Olfactory dysfunction is an increasingly recognised condition, associated with reduced quality of life and major health outcomes such as neurodegeneration and death. However, translational research in this field is limited by heterogeneity in methodological approach, including definitions of impairment, improvement and appropriate assessment techniques. Accordingly, effective treatments for smell loss are limited. In an effort to encourage high quality and comparable work in this field, among others, we propose the following ideas and recommendations. Whilst the full set of recommendations are outlined in the main document, points include the following: • Patients with suspected olfactory loss should undergo a full examination of the head and neck, including rigid nasal endoscopy with small diameter endoscopes. • Subjective olfactory assessment should not be undertaken in isolation, given its poor reliability. • Psychophysical assessment tools used in clinical and research settings should include reliable and validated tests of odour threshold, and/or one of odour identification or discrimination. • Comprehensive chemosensory assessment should include gustatory screening. • Smell training can be helpful in patients with olfactory loss of several aetiologies.

Published
2017

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