Results 111 to 120 of about 450,985 (343)

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan ...
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core   +2 more sources

Diseases of the middle ear in childhood

GMS current topics in otorhinolaryngology, head and neck surgery, 2014
Middle ear diseases in childhood play an important role in daily ENT practice due to their high incidence. Some of these like acute otitis media or otitis media with effusion have been studied extensively within the last decades. In this article, we present a selection of important childhood middle ear diseases and discuss the actual literature ...
Minovi, A, Dazert, S
openaire   +5 more sources

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Chemical Cauterisation versus Fat Plug Myringoplasty for Closure of Small Central Tympanic Membrane Perforation: A Prospective Interventional Study

Journal of Clinical and Diagnostic Research
Introduction: Perforation of the tympanic membrane is a commonly encountered problem in otolaryngology and often leads to conductive hearing loss as well as recurrent middle ear infections.
Paresh Chavan, Aishwarya Biradar, Vinod V Shinde, Mayur H Ingale, Madhura Gandhi   +4 more
doaj   +1 more source

Evaluation of hearing and cochlear function by audiometric testing in patients with hyperemesis gravidarum [PDF]

, 2015
INTRODUCTION: The aim of this study was to investigate cochlear functions in patients with hyperemesis gravidarum (HG).METHODS: Twenty-nine HG patients (58 ears) and 31 healthy control subjects (62 ears) were included.
Demirtas, Ömer, Genç, Selahattin, Kale, Ahmet, Selçuk, Adin, Terzi, Hasan, Yavuz, Arzu   +5 more
core   +2 more sources

NOX2 Contributes to High‐Frequency Outer Hair Cell Vulnerability in the Cochlea

Advanced Science, EarlyView.
This study first identifies NOX2 as a differentially expressed gene related to oxidative damage in the apical and basal turns through single‐cell RNA sequencing. NOX2 gene knockout mitigates OHCs damage caused by neomycin and noise and enhances Nrf2 expression and nuclear translocation.
Meihao Qi, Zejun Gao, Yang Qiu, Renfeng Wang, Keyong Tian, Bo Yue, Xinyu Zhang, Peng Zhang, Ziqi Wu, Qingwen Zhu, Zhenzhen Liu, Zhuoyao Ma, Xueying Zhou, Yu Han, Jun Chen, Jianhua Qiu, DingJun Zha   +16 more
wiley   +1 more source

Association of smoking or tobacco use with ear diseases among men: a retrospective study

Tobacco Induced Diseases, 2012
Background Health related behaviour specially smoking and tobacco in any form are major determinants of health and lead to health inequities. Tobacco leads to various health problems including ear, nose and throat diseases.
Kiran Gaur, Neeraj Kasliwal, Rajeev Gupta   +2 more
doaj   +1 more source

ACUTE OTITIS EXTERNA AS SEEN AT THE UNIVERSITY OF NIGERIA TEACHING HOSPITAL, ENUGU. [PDF]

, 2013
Aim: is to evaluate clinical features of AOE diagnosed in and to update the previous study from our facility.Methods: A prospective, clinical and laboratory study in a tertiary health facilityResults: A total of 3793 consecutive patients that attended ...
Ezeanolue, Basil, Godwin, Obasikene, Ibiam, Francis A, IJ, Okoroafor   +3 more
core   +1 more source

THE CLINICAL INVESTIGATION OF EAR DISEASES [PDF]

The Laryngoscope, 1896
n ...
openaire   +2 more sources

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

Advanced Science, EarlyView.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang, Yuehui Xi, Qiaojun Fang, Sai Shi, Fei Wang, Fuyu Xian, Zhongyang Zhang, Yuxin Yang, Xishuo Jin, Xiaomin Wang, Chen Cao, Hailin Zhang, Nikita Gamper, Zhigang Xu, Haitao Shen, Ping Lv   +15 more
wiley   +1 more source