Results 61 to 70 of about 29,227 (303)

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

Indian Journal of Endocrinology and Metabolism, 2012
Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie, Imran Ali, A G Ahangar, Mohd Maqbool Wani, Sanjeed Ahmed, Manzoor Ahmed Bhat, Sulaiman Seth, Syed Mudasir   +7 more
doaj   +1 more source

Advances in Microfluidic Cochlea‐On‐A‐Chip

Advanced Science, EarlyView.
This review systematically examines diverse cell sources for inner ear organoids and outlines stepwise induction protocols. Furthermore, it discusses current applications and prospective developments of cochlea‐on‐a‐chip technologies in areas such as deafness modeling, mechanistic studies, and drug evaluation, with particular focus on gene‐therapy drug
Tian Shen, Shanying Han, Weiwei He, Wen Yang, Xinghua Tang, Xiaolong Zhao, Xinghong Liu, Zhenhua Shao, Lin Cheng, Yu Zhao, Jiangang Fan   +10 more
wiley   +1 more source

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

Audio-vestibular symptoms in systemic autoimmune diseases [PDF]

, 2018
Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss
Adelchi, Croce, D'AGUANNO, VITTORIO, DE VINCENTIIS, Marco, DE VIRGILIO, ARMANDO, DI STADIO, Arianna, GRECO, Antonio, LONGO, Lucia, RALLI, MASSIMO   +7 more
core   +1 more source

Neural Plasticity and Hearing‐Speech Development in Children with Auditory Brainstem Implants for Congenital Hearing Loss Due to Severe Inner Ear Malformation

Advanced Science, EarlyView.
Data from a prospective cohort with 112 auditory brainstem implant users are analyzed. Younger age at implantation (<3 years), less severe inner‐ear malformation (common cavity, cochlear aplasia, and hypoplasia), and more intraoperative eABR evoked electrodes (≥60%) are associated with better hearing and speech outcomes.
Yu Zhang, Yongchuan Chai, Yiwen Zhang, Huan Jia, Zhaoyan Wang, Zhihua Zhang, Zhili Wang, Jie Chen, Xue Wang, Yun Li, Ying Chen, Hao Wu   +11 more
wiley   +1 more source

Viral‐Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model

Advanced Science, EarlyView.
AAV2.7m8 serotype combined with the gfaABC1D promoter targets infection of supporting cells (SCs). AAV2.7m8‐gfaABC1D‐Gjb2 administration to mice results in excessive immune responses. The combination of AAV2.7m8‐gfaABC1D‐Gjb2 with dexamethasone (DEX) shows a synergistic effect and enhances the gene therapy effect in a conditional Cx26 null mice model ...
Xiaohui Wang, Li Zhang, Sen Chen, Le Xie, Yue Qiu, Chenyang Kong, Ge Yin, Weijia Kong, Yu Sun   +8 more
wiley   +1 more source

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]

, 2015
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E, Biscaro, A, Cama, Elona, Caporali, L, Carelli, V., La Morgia, C, Liguori, R, Magnavita, V, Monteleone, A, Rossi, R, Santarelli, Rosamaria, Scimemi, Pietro, Valentino, Ml   +12 more
core   +3 more sources

Programmable NIR Responsive Nanocomposite Enables Noninvasive Intratympanic Delivery of Dexamethasone to Reverse Cisplatin Induced Hearing Loss

Advanced Science, EarlyView.
In this study, saponin‐coated silica@gold nanocarriers responsive to NIR radiation is developed to enhance intratympanic drug delivery for cisplatin‐induced hearing loss (CIHL) treatment. The biocompatibility and oto‐protective properties are validated both in vitro and in vivo.
Rawand A. Mustafa, Jiali Wang, Mengzhao Xun, Jessica M. Rosenholm, Wuqing Wang, Yilai Shu, Hongbo Zhang   +6 more
wiley   +1 more source

Mitochondrial dysfunction in hearing loss: Oxidative stress, autophagy and NLRP3 inflammasome

Frontiers in Cell and Developmental Biology, 2023
Sensorineural deafness becomes an inevitable worldwide healthy problem, yet the current curative therapy is limited. Emerging evidences demonstrate mitochondrial dysfunction plays a vital role of in the pathogenesis of deafness.
Peipei Li, Peipei Li, Shen Li, Le Wang, Hongmin Li, Yang Wang, Hongbing Liu, Xin Wang, Xiaodan Zhu, Zhangsuo Liu, Zhangsuo Liu, Fanglei Ye, Yuan Zhang   +12 more
doaj   +1 more source

Hearing through Vibrations: Perception of Musical Emotions by Profoundly Deaf People [PDF]

arXiv, 2020
Advances in tactile-audio feedback technology have created new possibilities for deaf people to feel music. However, little is known about deaf individuals' perception of musical emotions through vibrotactile feedback. In this paper, we present the findings from a mixed-methods study with 16 profoundly deaf participants. The study protocol was designed
arxiv