Results 21 to 30 of about 462 (99)

Genetics of pediatric hearing loss: A functional perspective

open access: yesLaryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +1 more source

Clinical evaluation of cochlear implantation in children younger than 12 months of age

open access: yesPediatric Investigation, Volume 4, Issue 2, Page 99-103, June 2020., 2020
ABSTRACT Importance Cochlear implantation (CI) is an effective therapy for patients with severe to profound sensorineural hearing loss. It remains controversial whether children younger than 12 months of age should undergo CI. Objective To evaluate the safety and effectiveness of CI in children younger than 12 months of age.
Yang Yang   +10 more
wiley   +1 more source

Recurrent Bacterial Meningitis Associated With Mondini Dysplasia

open access: yesPediatrics and Neonatology, 2011
We reported two cases of recurrent meningitis and both of them had Mondini dysplasia, which provides a link between the brain and inner ear and is associated with cerebrospinal fluid, otorrhea/rhinorrhea, hearing impairment, and recurrent meningitis ...
Tien-Hau Lien   +5 more
doaj   +1 more source

Middle Ear Salivary Choristoma: A Rare Case Report and Update on Congenital Associations, Facial Nerve Involvement, and Treatment Strategies

open access: yesCase Reports in Otolaryngology, Volume 2020, Issue 1, 2020., 2020
Salivary gland choristoma is an extremely rare middle ear mass and is hypothesized to be caused by second branchial arch developmental anomalies. We present a 14‐year‐old girl with Dandy–Walker syndrome and conductive hearing loss. Middle ear exploration revealed a large middle ear mass with absent incus and stapes and displaced facial nerve.
Allen Young   +3 more
wiley   +1 more source

Severe Klippel-Feil syndrome with Mondini malformation of inner ear

open access: yesThe Pan African Medical Journal, 2014
Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation.
Aqeel Abdullah Alaqeel
doaj   +1 more source

Outcome of cochlear implantation in children with enlarged vestibular aqueduct (EVA) and mondini dysplasia (incomplete partition type II)

open access: yesJournal of Medicine in Scientific Research, 2018
Background Congenital inner ear abnormality is a major cause of sensorineural hearing loss in children, about 20% of children with congenital sensorineural hearing loss (SNHL) have associated malformations of the temporal bone, and increased experience ...
Ihab Sefein   +5 more
doaj   +1 more source

Pilot study of large-scale production of mutant pigs by ENU mutagenesis

open access: yeseLife, 2017
N-ethyl-N-nitrosourea (ENU) mutagenesis is a powerful tool to generate mutants on a large scale efficiently, and to discover genes with novel functions at the whole-genome level in Caenorhabditis elegans, flies, zebrafish and mice, but it has never been ...
Tang Hai   +58 more
doaj   +1 more source

Mondini and Michel deformities of the inner ear: a case report

open access: yesTurkish Archives of Otorhinolaryngology, 2010
Congenital hearing loss is an important disease in otology. Approximately 20 percent of congenital sensorineural hearing loss have radiological bone malformations.
Çağlar Çallı   +4 more
doaj   +1 more source

Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Chd7 Mutant Mouse Ear

open access: yesFrontiers in Genetics, 2018
The chromatin remodeling protein CHD7 is critical for proper formation of the mammalian inner ear. Humans with heterozygous pathogenic variants in CHD7 exhibit CHARGE syndrome, characterized by hearing loss and inner ear dysplasia, including ...
Robert Durruthy-Durruthy   +8 more
doaj   +1 more source

A Ten‐Year Review of Audiological Performance in Children with Inner Ear Abnormalities after Cochlear Implantation in Singapore

open access: yesInternational Journal of Otolaryngology, Volume 2019, Issue 1, 2019., 2019
Objectives. To evaluate children with inner ear malformations following cochlear implantation (CI) in a tertiary pediatric hospital in Singapore to identify factors influencing outcomes after CI. Methods. This is a retrospective cohort study of children aged 0 to 18 years, who had CI between 2000 and 2013. Demographic information, data on risk factors,
Sok Yan Tay   +3 more
wiley   +1 more source

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