Audiometry - Open Access .click

Results 51 to 60 of about 44,405 (346)

Ear and Hearing, 2018
OBJECTIVES A confluence of recent developments in cloud computing, real-time web audio and machine learning psychometric function estimation has made wide dissemination of sophisticated turn-key audiometric assessments possible. The authors have combined
D. Barbour +10 more
semanticscholar +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 +13 more
wiley +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source

Automated Audiometry: A Review of the Implementation and Evaluation Methods

Healthcare Informatics Research, 2018
Objectives Automated audiometry provides an opportunity to do audiometry when there is no direct access to a clinical audiologist. This approach will help to use hearing services and resources efficiently.
Hassan Shojaee-Mend, H. Ayatollahi
semanticscholar +1 more source

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source

The Philippine National Ear Institute: Patient and Audiologic Profiles

Philippine Journal of Otolaryngology Head and Neck Surgery, 2007
Background: The Philippine National Ear Institute (PNEI) was created to promote health of hearing and balance among Filipinos. Over the years it, has provided audiologic services to thousands of patients annually and has published relevant hearing and
Regie Lyn P. Santos-Cortez +9 more
doaj +1 more source

Evaluation of Carhart’s Notch in Patients with Serous Otitis Media

The Turkish Journal of Ear Nose and Throat, 2022
Objective: To investigate the changes in bone-conduction and air-bone gap in patients with serous otitis media and to evaluate the presence of Carhart’s notch. Material and Methods: Patients with unilateral serous otitis media were included in the study.
Aykut Erdem Dinç +3 more
doaj +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard +2 more
wiley +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Intra- and Postoperative Electrocochleography May Be Predictive of Final Electrode Position and Postoperative Hearing Preservation

Frontiers in Neuroscience, 2017
Introduction: The objectives of the current study were to (1) determine the relationship between electrocochleography (ECochG), measured from the cochlear implant (CI) electrode array during and after implantation, and postoperative audiometric ...
Brendan P. O'Connell +12 more
doaj +1 more source

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