Results 31 to 40 of about 2,878,732 (209)

Audiological findings of a patient with H syndrome: case report

The Egyptian Journal of Otolaryngology, 2021
Background H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of
Diala Hussein, Büşra Altın, Münir Demir Bajin   +2 more
doaj   +1 more source

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

Idiopathic sensorineural hearing loss [PDF]

, 2022
Introduction. Idiopathic sensorineural hearing loss is a medical emergency, which requires immediate clinical and paraclinical examinations, as well as an appropriate and prompt treatment.
Gutium, Vitalia, Noroc, Iurie
core   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

Sensorineural Hearing Loss in Diabetes Mellitus

مجلة الكوفة الطبية, 2023
Background: Sensorineural hearing loss are common neurological deficit, and diabetes mellitus is a common cause for these problems. Hearing impairment affects the quality of life of diabetic patients.
Anmar Abdullah Jassim alhamadani, Ghassan Mohammad Ahmed alrawy, Ahmed Saadallah Ahmed alhankawi, samet almoula   +3 more
doaj   +1 more source

Screening of SLC26A4 Gene Hotspots in 2673 Patients Associated with Sensorineural Hearing Loss in Northwestern China

, 2022
Background: This study aimed to investigate the incidence of the hotspot mutations c.919-2A>G and c.2168A>G in SLC26A4 in the northwestern Chinese population.
Baicheng Xu, Yanli Wang, Yufen Guo, Wang, Yanli, Yiming Zhu, Xingjian Chen, Zhu, Yiming, Li, Yong, Xu, Baicheng, Chen, Xingjian, Yong Li, Guo, Yufen   +11 more
core   +1 more source

Transient Sleep Deprivation Induces Persistent Auditory Neuropathy via ROS‐Initiated Neuroinflammation and BK Channel Suppression

Advanced Science, EarlyView.
Sleep disturbance severity closely tracks hearing loss in a clinical cohort, yet the mechanistic link remains unclear. Acute sleep deprivation is shown to trigger transient cochlear oxidative stress that switches into a self‐sustaining neuroinflammatory state, suppressing BK channels and causing irreversible synaptopathy.
Dan Chen, Ying Ma, Lixuan Huang, Xin Chen, Fanliang Kong, Zhenzhou Qian, Mingyue Guan, Xinlin Wang, Yanyan Yang, Shasha Zhang, Peng Li, Renjie Chai   +11 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source