Results 81 to 90 of about 257,579 (343)

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng   +9 more
wiley   +1 more source

Effects of neoadjuvant immunotherapy on hearing in patients with head and neck squamous cell carcinoma

open access: yesScientific Reports
Immune checkpoint blockade (ICB) is a commonly used treatment modality for cancer with a growing list of oncologic indications. Ototoxicity is a potential immune-related adverse event of ICB treatment, but the risk of hearing loss after ICB remains ...
Bryce Hambach   +11 more
doaj   +1 more source

Heritability and complex segregation analysis of deafness in Jack Russell Terriers

open access: yesBMC Veterinary Research, 2007
Background The association between patterns of pigmentation and deafness in the dog has a long-documented history, with reports dating back over one hundred years.
Strain George M   +2 more
doaj   +1 more source

Speech Perception Outcomes in Cochlear Implant Users Undergoing Remote Versus In‐Person Programming: A Systematic Review and Meta Analysis

open access: yesThe Laryngoscope, EarlyView.
This study reviews the literature comparing speech recognition outcomes between remote versus in‐person CI programming. Speech recognition outcomes tested in quiet were similar between in‐person programmed and remotely programmed CI users for word lists (SMD: −0.06 [95% CI: −0.37–0.35], p = 0.71) and for sentences (SMD: −0.28 [95% CI: −0.79–0.24], p ...
Anuja H. Shah   +4 more
wiley   +1 more source

The acoustic change complex as a diagnostic tool for cochlear dead regions evaluated in normally hearing adults

open access: yesScientific Reports
The loss of inner hair cells and/or neurons in the cochlea leads to cochlear dead regions (DRs). One of the consequences of DRs is noisy transmission of information from the cochlea to the brain, which results in poorer than expected perception of speech
Anna Schelenz   +4 more
doaj   +1 more source

Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice

open access: yesMolecular Therapy: Methods & Clinical Development, 2016
X-linked retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding the protein retinoschisin (RS1) and is one of the most common causes of macular degeneration in young men.
Dario Marangoni   +12 more
doaj   +1 more source

Vocal Fold Kinematics in Phonotrauma From High Speed Videoendoscopy

open access: yesThe Laryngoscope, EarlyView.
This study aimed to quantify vocal fold vibratory kinematics associated with phonotraumatic vocal fold lesions. Results found that individuals with phonotrauma had increased vocal fold closing velocity, evidenced by a higher maximum area declination rate, and increased vibrational amplitude.
Laura E. Toles, Ted Mau
wiley   +1 more source

DEAF-DEAF-DIFFERENT. ambiguities of being deaf in Benin

open access: yes, 2022
Deaf lives are shaped by individual and social biographies, access to social and educational infrastructures, and the kinds of deafness a person is born with or acquires. In Benin – as in many other parts of the global south where medical and geographic conditions foster illnesses that produce hearing loss – there is a higher incidence of deafness ...
openaire   +3 more sources

The genetics of deafness in domestic animals

open access: yesFrontiers in Veterinary Science, 2015
Although deafness can be acquired throughout an animal’s life from a variety of causes, hereditary deafness, especially congenital hereditary deafness, is a significant problem in several species.
George M Strain
doaj   +1 more source

Home - About - Disclaimer - Privacy