Results 51 to 60 of about 42,754 (253)

Functionalized Biomimetic Scaffolds for Human‐Derived Auditory Neural Circuit Construction

Advanced Science, EarlyView.
In Vitro Auditory Circuit Model. ABSTRACT Damage to auditory circuits results in sensorineural hearing loss. However, the scarcity of human inner ear tissue significantly hinders the development of therapies to preserve auditory function, creating a critical need for reliable in vitro models.
Pan Feng, Qian Zhu, Yusong Wang, Hao Rong, Xu Zhang, Fuchun Wang, Tianqi Yu, Wenxuan Wang, Jing Li, Lei Tian, Menghui Liao, Renjie Chai, Yangnan Hu   +12 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss Following Wasp Sting and Successful Treatment With Intratympanic Steroids

Clinical Medicine Insights: Case Reports, 2019
Objective: A sting by a Vespula vulgaris (wasp) should be considered as a cause of sudden sensorineural hearing loss. Although the mechanism of this cause is not well understood, management approach is similar to idiopathic sudden sensorineural hearing ...
Anwuli Anyah, Michael Visconti, James Spoto   +2 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Recovery of sensorineural hearing loss in congenital hypothyroidism

B-ENT, 2017
Recovery of sensorineural hearing loss in congenital hypothyroidism. Introduction: Congenital hypothyroidism (CH) may generate serious neurologic complications in children.
A. Grandjean, T. Van Becelaere, D. Beckers, P. Eloy, J.P. Van Damme, P. Garin, C. Gilain   +6 more
doaj   +2 more sources

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Metabolomic profiling reveals potential biomarkers for sudden sensorineural hearing loss

Science Progress
Background: Sudden sensorineural hearing loss is a prevalent ear disorder requiring acute intervention, characterized by unclear etiology and challenging therapeutic interventions. This study aims to identify potential biomarkers for sudden sensorineural
Xintao Wang, Xueping Huang, Huasong Zhang, Yongkang Ou, Suijun Chen   +4 more
doaj   +1 more source

Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology, 2015
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11–22. The 35delG mutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important.
Danielle Moreira, Daniela da Silva, Priscila Lopez, Jair Cortez Mantovani   +3 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Postural control assessment in students with normal hearing and sensorineural hearing loss

Brazilian Journal of Otorhinolaryngology, 2015
INTRODUCTION: Children with sensorineural hearing loss can present with instabilities in postural control, possibly as a consequence of hypoactivity of their vestibular system due to internal ear injury.OBJECTIVE: To assess postural control stability in ...
Renato de Souza Melo, Andrea Lemos, Carla Fabiana da Silva Toscano Macky, Maria Cristina Falcão Raposo, Karla Mônica Ferraz   +4 more
doaj   +1 more source