Results 91 to 100 of about 645,742 (397)

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, EarlyView.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

SK2 channels are required for function and long-term survival of efferent synapses on mammalian outer hair cells [PDF]

, 2009
Cochlear hair cells use SK2 currents to shape responses to cholinergic efferent feedback from the brain. Using SK2-/- mice, we demonstrate that, in addition to their previously defined role in modulating hair cell membrane potentials, SK2 channels are ...
Adelman, John P., Bond, Chris T., Elgoyhen, Ana Belen, Haque, Nadeem, Liberman, M. Charles, Maison, Stéphane F., Murthy, Vidya, Taranda, Julian, Vetter, Douglas E.   +8 more
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Malignant Melanoma of the External Auditory Canal:A Rare Entity [PDF]

Iranian Journal of Otorhinolaryngology, 2018
Introduction: Although malignant melanomas (MM) are common in the head and neck region; primary malignant melanoma of the external auditory canal (EAC) is rare.
Yookarin Khonglah, Nabanita Das, Vandana Raphael, Ankit Jitani, N Brian Shunyu   +4 more
doaj   +1 more source

Improving elevation perception with a tool for image-guided head-related transfer function selection [PDF]

, 2017
This paper proposes an image-guided HRTF selection procedure that exploits the relation between features of the pinna shape and HRTF notches. Using a 2D image of a subject's pinna, the procedure selects from a database the HRTF set that best fits the ...
Avanzini, Federico, Geronazzo, Michele, Peruch, Enrico, Prandoni, Fabio   +3 more
core  

On the development of the chondrocranium and the histological anatomy of the head in perinatal stages of marsupial mammals [PDF]

, 2017
An overview of the literature on the chondrocranium of marsupial mammals reveals a relative conservatism in shape and structures. We document the histological cranial anatomy of individuals representing Monodelphis domestica, Dromiciops gliroides ...
Forasiepi, Analia Marta, Sánchez Villagra, Marcelo R.   +1 more
core   +4 more sources

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Ivory Osteoma Of Temporal Bone [PDF]

, 2006
Osteomas are slow growing bony tumors common in fronto-ethmoid regions and rare in temporal bone. These are usually asymptomatic and require treatment mainly for cosmetic reasons.
Meher, Dr. Ravi
core   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Association between superior semicircular canal dehiscence and other dehiscences in temporal bone

Folia Morphologica, 2020
BACKGROUND: The study of the association between superior semicircular canal and other dehiscences in the temporal bone. MATERIALS AND METHODS: We have studied computed tomography of radiologically diagnosed people with superior or posterior semicircular
J. Whyte, A. I. Cisneros, A. Garcia-Barrios, J. Fraile, A. Whyte, R. Crovetto, M. Lahoz   +6 more
doaj   +1 more source