666 results match your criteria Inner Ear Genetic Sensorineural Hearing Loss


Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Front Genet 2018 30;9:600. Epub 2018 Nov 30.

Division of Endocrine and Metabolic Diseases, Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano, Milan, Italy.

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal growth retardation, and dysmorphic features. Read More

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http://dx.doi.org/10.3389/fgene.2018.00600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284021PMC
November 2018

Auditory disorders and future therapies with delivery systems.

J Tissue Eng 2018 Jan-Dec;9:2041731418808455. Epub 2018 Oct 30.

Institute of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan, Republic of Korea.

Auditory function takes a major part in human life. While sensorineural hearing loss is related with many factors including genetic disorders, age and noise, the clear causes are not well understood. Even more, the currently available treatments with drugs cause side effects, which thus are considered suboptimal. Read More

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http://dx.doi.org/10.1177/2041731418808455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207966PMC
October 2018
2 Reads

Inner Ear Hair Cell Protection in Mammals against the Noise-Induced Cochlear Damage.

Neural Plast 2018 15;2018:3170801. Epub 2018 Jul 15.

ENT Institute and Department of Otorhinolaryngology of the Affiliated Eye and ENT Hospital, State Key Laboratory of Medical Neurobiology, Fudan University, Shanghai 200031, China.

Inner ear hair cells are mechanosensory receptors that perceive mechanical sound and help to decode the sound in order to understand spoken language. Exposure to intense noise may result in the damage to the inner ear hair cells, causing noise-induced hearing loss (NIHL). Particularly, the outer hair cells are the first and the most affected cells in NIHL. Read More

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http://dx.doi.org/10.1155/2018/3170801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079343PMC
December 2018
10 Reads

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

Rev Med Interne 2018 Jul 18. Epub 2018 Jul 18.

Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.

Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.06.005DOI Listing
July 2018
5 Reads

Potential of Gene and Cell Therapy for Inner Ear Hair Cells.

Biomed Res Int 2018 13;2018:8137614. Epub 2018 Jun 13.

Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Chungnam National University, Daejeon, Republic of Korea.

Sensorineural hearing loss is caused by the loss of sensory hair cells (HCs) or a damaged afferent nerve pathway to the auditory cortex. The most common option for the treatment of sensorineural hearing loss is hearing rehabilitation using hearing devices. Various kinds of hearing devices are available but, despite recent advancements, their perceived sound quality does not mimic that of the "naïve" cochlea. Read More

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http://dx.doi.org/10.1155/2018/8137614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020521PMC
June 2018
6 Reads

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Hum Genet 2018 Jul 7;137(6-7):479-486. Epub 2018 Jul 7.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA.

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. Read More

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http://dx.doi.org/10.1007/s00439-018-1901-4DOI Listing
July 2018
6 Reads
4.820 Impact Factor

Cochlear hair cell regeneration: an emerging opportunity to cure noise-induced sensorineural hearing loss.

Drug Discov Today 2018 Aug 4;23(8):1564-1569. Epub 2018 May 4.

Hough Ear Institute, 3400 NW 56(th) Street, Oklahoma City, OK 73112, USA.

In mammals, cochlear hair cells have a pivotal role in transducing mechanical energy into electrical signals. Cochlear hair cells are sensitive to acoustic trauma, drug insults, aging, and environmental or genetic influences that can cause permanent hearing loss. Currently, many researchers have focused on noise-induced sensorineural hearing loss (SNHL). Read More

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http://dx.doi.org/10.1016/j.drudis.2018.05.001DOI Listing
August 2018
6.691 Impact Factor

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

PLoS Genet 2018 03 28;14(3):e1007297. Epub 2018 Mar 28.

Laboratory of Molecular Genetics, Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, United States of America.

Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23. Read More

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http://dx.doi.org/10.1371/journal.pgen.1007297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891075PMC
March 2018
2 Reads

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.

Int J Pediatr Otorhinolaryngol 2018 Apr 31;107:97-100. Epub 2018 Jan 31.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China. Electronic address:

Objectives: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome.

Methods: Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.01.037DOI Listing
April 2018
5 Reads

Mutation of , an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.

J Med Genet 2018 May 16;55(5):298-306. Epub 2018 Feb 16.

Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, Beijing, China.

Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931241PMC
May 2018
19 Reads

Protective effect of adenovirus-mediated erythropoietin expression on the spiral ganglion neurons in the rat inner ear.

Int J Mol Med 2018 May 5;41(5):2669-2677. Epub 2018 Feb 5.

Department of Otolaryngology, Southwest Hospital, The Third Military Medical University, Chongqing 400038, P.R. China.

The aim of the present study was to evaluate the expression of erythropoietin (Epo) and the Epo receptor (Epo‑R) in the spiral ganglion neurons (SGNs) of the rat inner ear, and to assess the effect of Epo adenovirus vector (Ad‑Epo) on the spontaneous apoptosis of SGNs. A total of 60 ears from 30 healthy neonatal (2‑3 days postnatal) Sprague‑Dawley rats were used to examine the expression of Epo in the SGNs. The rats were divided into three groups: The negative control group, the vector control group [infected with a green fluorescent protein expression vector (Ad‑GFP)] and the Ad‑Epo group (infected with Ad‑Epo). Read More

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http://dx.doi.org/10.3892/ijmm.2018.3455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846647PMC
May 2018
3 Reads

Acquired sensorineural hearing loss in children: current research and therapeutic perspectives.

Acta Otorhinolaryngol Ital 2017 Dec;37(6):500-508

Department of Otolaryngology, Catholic University of Sacred Heart, Rome, Italy.

The knowledge of mechanisms responsible for acquired sensorineural hearing loss in children, such as viral and bacterial infections, noise exposure, aminoglycoside and cisplatin ototoxicity, is increasing and progressively changing the clinical management of affected patients. Viral infections are by far the most relevant cause of acquired hearing loss, followed by aminoglycoside and platinum derivative ototoxicity; moreover, cochlear damage induced by noise overexposure, mainly in adolescents, is an emerging topic. Pharmacological approaches are still challenging to develop a truly effective cochlear protection; however, the use of steroids, antioxidants, antiviral drugs and other small molecules is encouraging for clinical practice. Read More

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http://dx.doi.org/10.14639/0392-100X-1574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5782428PMC
December 2017
1 Read

Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

Front Immunol 2017 13;8:1739. Epub 2017 Dec 13.

Otology and Neurotology Group CTS495, Department of Genomic Medicine - Centre for Genomics and Oncological Research - Pfizer/Universidad de Granada/Junta de Andalucía (GENYO), Granada, Spain.

Meniere's disease (MD) is a rare disorder characterized by episodic vertigo, sensorineural hearing loss, tinnitus, and aural fullness. It is associated with a fluid imbalance between the secretion of endolymph in the cochlear duct and its reabsorption into the subarachnoid space, leading to an accumulation of endolymph in the inner ear. Epidemiological evidence, including familial aggregation, indicates a genetic contribution and a consistent association with autoimmune diseases (AD). Read More

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http://dx.doi.org/10.3389/fimmu.2017.01739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733484PMC
December 2017
26 Reads

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.

Int J Mol Sci 2018 Jan 10;19(1). Epub 2018 Jan 10.

Institute of Pharmacology and Toxicology, Paracelsus Medical University, Strubergasse 21, A-5020 Salzburg, Austria.

The prevalence and spectrum of sequence alterations in the gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological alteration of the vestibular aqueduct underwent Sanger sequencing of and , coding for connexin 26. The pathogenicity of sequence alterations detected was assessed by determining ion transport and molecular features of the corresponding SLC26A4 protein variants. Read More

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http://dx.doi.org/10.3390/ijms19010209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796158PMC
January 2018
4 Reads

A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Int J Pediatr Otorhinolaryngol 2018 Jan 6;104:94-97. Epub 2017 Nov 6.

Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876173054
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http://dx.doi.org/10.1016/j.ijporl.2017.11.001DOI Listing
January 2018
13 Reads

A Novel Nano-approach for Targeted Inner Ear Imaging.

J Nanomed Nanotechnol 2017 Aug 31;8(4). Epub 2017 Aug 31.

Department of Otolaryngology, Head & Neck Surgery, University of Pennsylvania Health System, Philadelphia, USA.

During the last decade, there have been major improvements in imaging modalities and the development of molecular imaging in general. However detailed inner ear imaging still provides very limited information to physicians. This is unsatisfactory as sensorineural hearing loss is the main cause of permanent hearing loss in adults and at least 134 genetic mutations that result in congenital hearing loss have been identified. Read More

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http://dx.doi.org/10.4172/2157-7439.1000456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669391PMC
August 2017
5 Reads

Challenges and opportunities in developing targeted molecular imaging to determine inner ear defects of sensorineural hearing loss.

Nanomedicine 2018 02 24;14(2):397-404. Epub 2017 Oct 24.

Department of Otorhinolaryngology-Head & Neck Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA. Electronic address:

The development of inner ear gene carriers and delivery systems has enabled genetic defects to be repaired and hearing to be restored in mouse models. Today, promising advances in translational therapies provide confidence that targeted molecular therapy for inner ear diseases will be developed. Unfortunately, the currently available non-invasive modalities, such as Computerized Tomography scan or Magnetic Resonance Imaging provide insufficient resolution to identify most pathologies of the human inner ear, even when the current generation of contrast agents is utilized. Read More

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http://dx.doi.org/10.1016/j.nano.2017.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5844828PMC
February 2018
13 Reads

A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts.

Mol Med Rep 2017 Dec 2;16(6):9011-9016. Epub 2017 Oct 2.

Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China.

Enlarged vestibular aqueduct (EVA)‑associated hearing loss is frequently detected in individuals carrying the SLC26A4 mutation in the Chinese population. The present study aimed to identify the causative SLC26A4 coding mutations in a patient group with nonsyndromic hearing loss (NSHL) and EVA. Genomic DNA was extracted from blood samples obtained from 52 NSHL patients with EVA and from 60 normal controls. Read More

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https://www.spandidos-publications.com/10.3892/mmr.2017.7690
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http://dx.doi.org/10.3892/mmr.2017.7690DOI Listing
December 2017
14 Reads

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.

Orphanet J Rare Dis 2017 09 25;12(1):157. Epub 2017 Sep 25.

Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, Tokyo, 152-8902, Japan.

Background: To date, 102 genes have been reported as responsible for non-syndromic hearing loss, some of which are associated with specific audiogram features. Four genes have been reported as causative for mid-frequency sensorineural hearing loss (MFSNHL), among which TECTA is the most frequently reported; however, the prevalence of TECTA mutations is unknown. To elucidate the prevalence of TECTA mutation in MFSNHL and clarify genotype-phenotype correlations, we analyzed the genetic and clinical features of patients with MFSNHL. Read More

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http://dx.doi.org/10.1186/s13023-017-0708-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613382PMC
September 2017
9 Reads

Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.

Hum Mol Genet 2017 10;26(19):3722-3735

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Mutations of the human ATP6V1B1 gene cause distal renal tubular acidosis (dRTA; OMIM #267300) often associated with sensorineural hearing impairment; however, mice with a knockout mutation of Atp6v1b1 were reported to exhibit a compensated acidosis and normal hearing. We discovered a new spontaneous mutation (vortex, symbol vtx) of Atp6v1b1 in an MRL/MpJ (MRL) colony of mice. In contrast to the reported phenotype of the knockout mouse, which was developed on a primarily C57BL/6 (B6) strain background, MRL-Atp6v1b1vtx/vtx mutant mice exhibit profound hearing impairment, which is associated with enlarged endolymphatic compartments of the inner ear. Read More

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http://dx.doi.org/10.1093/hmg/ddx257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886195PMC
October 2017
12 Reads

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G.

Proc Natl Acad Sci U S A 2017 09 23;114(36):9695-9700. Epub 2017 Aug 23.

INSERM, UMR 1120, Paris, France;

Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process. Read More

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http://dx.doi.org/10.1073/pnas.1708894114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5594693PMC
September 2017
35 Reads

Auditory dysfunction in patients with Huntington's disease.

Clin Neurophysiol 2017 10 29;128(10):1946-1953. Epub 2017 Jul 29.

Department of Auditory Neuroscience, Institute of Experimental Medicine, The Czech Academy of Sciences, Prague, Czech Republic.

Objective: Huntington's disease (HD) is an autosomal, dominantly inherited, neurodegenerative disease. The main clinical features are motor impairment, progressive cognitive deterioration and behavioral changes. The aim of our study was to find out whether patients with HD suffer from disorders of the auditory system. Read More

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http://dx.doi.org/10.1016/j.clinph.2017.07.403DOI Listing
October 2017
41 Reads

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

J Pediatr Genet 2017 Sep 7;6(3):181-185. Epub 2017 Mar 7.

Section of Pediatrics, Department of Translational Medical Sciences, "Federico II" University of Naples, Naples, Italy.

Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. Read More

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http://dx.doi.org/10.1055/s-0037-1599223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548532PMC
September 2017
6 Reads

A common -linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.

J Med Genet 2017 Oct 5;54(10):665-673. Epub 2017 Aug 5.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders (NIDCD), Bethesda, Maryland, USA.

Background: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). Read More

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http://dx.doi.org/10.1136/jmedgenet-2017-104721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880640PMC
October 2017
17 Reads

Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.

Int J Pediatr Otorhinolaryngol 2017 Oct 29;101:254-258. Epub 2017 Jul 29.

Clinic of Audiology & ENT, University of Ferrara, Italy.

Background: Enlarged Vestibular Aqueduct (EVA) is one of the most common congenital malformations associated with sensorineural or mixed hearing loss. The association between hearing loss and EVA is described in syndromic (i.e. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.07.042DOI Listing
October 2017
9 Reads

Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.

Audiol Neurootol 2017 22;22(2):83-88. Epub 2017 Jul 22.

Department of Pediatric Otolaryngology, Necker Enfants-Malades Hospital, Paris, France.

Objective: Unilateral sensorineural hearing loss (USNHL) is known to impact on school performance and social skills during childhood, but the etiologies remain unclear. The aim of this study was to assess various etiologies and to study the clinical contexts in this population.

Methods: The study is a retrospective review. Read More

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http://dx.doi.org/10.1159/000474928DOI Listing
August 2018
47 Reads

Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study.

Biosci Trends 2017 Sep 17;11(4):460-468. Epub 2017 Jul 17.

Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education.

We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations). Read More

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http://dx.doi.org/10.5582/bst.2017.01070DOI Listing
September 2017
11 Reads

The genetics of hair-cell function in zebrafish.

Authors:
Teresa Nicolson

J Neurogenet 2017 09 13;31(3):102-112. Epub 2017 Jul 13.

a Oregon Hearing Research Center and the Vollum Institute, Oregon Health and Science University , Portland , OR , USA.

Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. Read More

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http://dx.doi.org/10.1080/01677063.2017.1342246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080859PMC
September 2017
5 Reads

Etiologic and Audiologic Characteristics of Patients With Pediatric-Onset Unilateral and Asymmetric Sensorineural Hearing Loss.

JAMA Otolaryngol Head Neck Surg 2017 Sep;143(9):912-919

Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.

Importance: Pediatric-onset unilateral and asymmetric sensorineural hearing loss (SNHL) is a common condition, but in most patients, the cause remains unclear; thus, determination of the hearing outlook is difficult.

Objective: To analyze the etiologic and audiologic characteristics of pediatric-onset unilateral and asymmetric SNHL.

Design, Setting, And Participants: In this retrospective cohort study performed from January 1, 2008, through December 31, 2016, patients at a tertiary referral center who were diagnosed with pediatric-onset unilateral or asymmetric SNHL were divided into 3 groups according to their hearing levels: unilateral hearing loss with scaled-out levels (UHL-SO), unilateral hearing loss with residual hearing (UHL-RH), and asymmetric hearing loss (AHL). Read More

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http://dx.doi.org/10.1001/jamaoto.2017.0945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710283PMC
September 2017
2 Reads

Transcriptome-wide comparison of the impact of Atoh1 and miR-183 family on pluripotent stem cells and multipotent otic progenitor cells.

PLoS One 2017 7;12(7):e0180855. Epub 2017 Jul 7.

Department of Biomedical Sciences, Creighton University, Omaha, Nebraska, United States of America.

Over 5% of the global population suffers from disabling hearing loss caused by multiple factors including aging, noise exposure, genetic predisposition, or use of ototoxic drugs. Sensorineural hearing loss is often caused by the loss of sensory hair cells (HCs) of the inner ear. A barrier to hearing restoration after HC loss is the limited ability of mammalian auditory HCs to spontaneously regenerate. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0180855PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501616PMC
September 2017
7 Reads

New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

Hum Mutat 2017 10 1;38(10):1421-1431. Epub 2017 Aug 1.

Institutes of Biomedical Science, Fudan University, Shanghai, China.

Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. At least 50% of hearing loss are due to a genetic etiology. Although hundreds of genes have been reported, there are still hundreds of related deafness genes to be found. Read More

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http://doi.wiley.com/10.1002/humu.23285
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http://dx.doi.org/10.1002/humu.23285DOI Listing
October 2017
8 Reads

Rhesus Cochlear and Vestibular Functions Are Preserved After Inner Ear Injection of Saline Volume Sufficient for Gene Therapy Delivery.

J Assoc Res Otolaryngol 2017 Aug 23;18(4):601-617. Epub 2017 Jun 23.

Vestibular NeuroEngineering Lab, Department of Otolaryngology-Head & Neck Surgery, Johns Hopkins University School of Medicine, 720 Rutland Ave., Ross Bldg Rm 830, Baltimore, MD, 21205, USA.

Sensorineural losses of hearing and vestibular sensation due to hair cell dysfunction are among the most common disabilities. Recent preclinical research demonstrates that treatment of the inner ear with a variety of compounds, including gene therapy agents, may elicit regeneration and/or repair of hair cells in animals exposed to ototoxic medications or other insults to the inner ear. Delivery of gene therapy may also offer a means for treatment of hereditary hearing loss. Read More

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http://dx.doi.org/10.1007/s10162-017-0628-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532186PMC
August 2017
17 Reads

Cochleovestibular gene transfer in neonatal mice by canalostomy.

Neuroreport 2017 Aug;28(11):682-688

aDepartment of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing bDepartment of Otolaryngology Head and Neck Surgery, Shanghai First People's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Impairments of the inner ear result in sensorineural hearing loss and vestibular dysfunction in humans. A large proportion of these disorders are congenital, and involve both auditory and vestibular systems. Therefore, genetic interventions to correct deficits must be administered during early developmental stages. Read More

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http://dx.doi.org/10.1097/WNR.0000000000000827DOI Listing
August 2017
3 Reads

[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):390-392

Prenatal Diagnostic Center, the Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei 050011, China.

Objective: To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.

Methods: Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.03.017DOI Listing
June 2017
17 Reads

[Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):336-341

Key Laboratory for Birth Defect of Weazhou City, Central Laboratory, Central Hospital of Wenzhou, Wenzhou, Zhejiang 325000, China.

Objective: To carry out mutation analysis and prenatal diagnosis for 12 families affected with hearing loss and enlarged vestibular aqueduct from southern Zhejiang province.

Methods: Clinical data and peripheral venous blood samples of 38 members from the 12 families were obtained. Mutations of 4 genes, namely SLC26A4, GJB2, c. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.03.005DOI Listing
June 2017
8 Reads

A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.

Int J Pediatr Otorhinolaryngol 2017 Apr 14;95:104-108. Epub 2017 Feb 14.

Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China. Electronic address:

Objectives: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct syndrome.

Methods: We conducted clinical and genetic evaluations in a deaf proband and his normal-hearing parents. Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to detect the pathogenic mutations. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.02.013DOI Listing
April 2017
16 Reads

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Am J Med Genet A 2017 Aug 1;173(8):2210-2218. Epub 2017 Jun 1.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1. Read More

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http://dx.doi.org/10.1002/ajmg.a.38316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526054PMC
August 2017
24 Reads

Biochemical alteration in children with idiopathic nephrotic syndrome associated with an increased risk of sensorineural hearing loss; additional insights in cochlear renal relationship.

Int J Pediatr Otorhinolaryngol 2017 Jun 17;97:206-210. Epub 2017 Apr 17.

Pediatrics Department, Faculty of Medicine, Menoufia University, Shebin EL-Kom, Egypt. Electronic address:

Objectives: Children with Idiopathic Nephrotic Syndrome (INS) are at risk of hearing loss due to the adverse impact of medications and related immunological and genetic factors on both cochlea and kidney. So this work was planned to evaluate hearing status in children with INS and to clarify the possible associated risk factors by interpreting the clinical and laboratory profiles of those children.

Methods: Ninety children with INS aged 5-14 years [30 patients with steroid-sensitive nephrotic syndrome (SSNS), 30 patients with steroid dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS), and 30 patients with steroid-resistant nephrotic syndrome (SRNS)], and 90 age and sex matched normal controls were enrolled into this study. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.04.020DOI Listing
June 2017
24 Reads

Prognostic impact of gene polymorphisms in patients with idiopathic sudden sensorineural hearing loss.

Acta Otolaryngol 2017 1;137(sup565):S24-S29. Epub 2017 Apr 1.

a Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Japan.

Objective: To investigate whether genetic polymorphisms (single-nucleotide polymorphism [SNPs]) have a prognostic influence on hearing recovery after standardized corticosteroid therapy.

Methods: A total of 192 gene samples from idiopathic sudden sensorineural hearing loss (SSNHL) patients registered in the Intractable Inner Ear Disease Gene Bank were enrolled and, as the candidate genes, 16 SNPs from 13 genes were selected for this study. Fischer's exact test was used to compare allele frequencies in each SNP between the patients with good hearing recovery and patients with poor hearing recovery. Read More

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http://dx.doi.org/10.1080/00016489.2017.1296971DOI Listing
March 2018
8 Reads

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

BMC Med Genet 2017 03 23;18(1):35. Epub 2017 Mar 23.

Department of Otolaryngology, The People's Hospital of Guangxi Zhuang Autonomous Region, 6 Taoyuan Road, Nanning, 530021, China.

Background: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). Read More

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-017-0400-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364697PMC
March 2017
25 Reads

[The type of traumatic sensorineural hearing loss affects diagnostic and medico-legal assessment].

Authors:
Steen Gimsing

Ugeskr Laeger 2017 Mar;179(12)

Traumatic sensorineural hearing loss (TSHN) is mostly a high-frequency loss resembling noise-induced hearing loss (NIHL). However, approx. 25% of TSHN audiograms differ from NIHL in being of the slope, flat or low-frequency type. Read More

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March 2017
1 Read

Incomplete partition type III: A rare and difficult cochlear implant surgical indication.

Auris Nasus Larynx 2018 Feb 16;45(1):26-32. Epub 2017 Mar 16.

Department of Otolaryngology, Head and Neck Surgery, Hacettepe University, Faculty of Medicine, Turkey. Electronic address:

Objective: Presenting the clinical features and treatment options for incomplete partition type-III.

Methods: Nine primary and 1 revision incomplete partition type-III cochlear implant cases treated between 2004 and 2015 in Hacettepe University Department of Otolaryngology were included in the study. Treatment options and particularly cochlear implantation tecnique were described. Read More

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http://dx.doi.org/10.1016/j.anl.2017.02.006DOI Listing
February 2018
9 Reads

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.

Mol Ther 2017 03 21;25(3):780-791. Epub 2017 Feb 21.

Neurotology Program, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, MD 20892, USA; Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA. Electronic address:

Dizziness and hearing loss are among the most common disabilities. Many forms of hereditary balance and hearing disorders are caused by abnormal development of stereocilia, mechanosensory organelles on the apical surface of hair cells in the inner ear. The deaf whirler mouse, a model of human Usher syndrome (manifested by hearing loss, dizziness, and blindness), has a recessive mutation in the whirlin gene, which renders hair cell stereocilia short and dysfunctional. Read More

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http://dx.doi.org/10.1016/j.ymthe.2017.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363211PMC
March 2017
4 Reads

Hearing disorders in cats.

Authors:
George M Strain

J Feline Med Surg 2017 Mar;19(3):276-287

Comparative Biomedical Sciences, School of Veterinary Medicine, Louisiana State University, Baton Rouge, LA 70803, USA.

Practical relevance: Auditory function is a sense that is central to life for cats - being important in situational awareness of potential predators, pursuit of prey, and for communication with conspecifics, humans and other species. Deafness in cats is most frequently the result of a genetic disorder, strongly associated with white fur and blue eyes, but may also result from acquired causes such as advancing age, ototoxic drugs, infection, environmental noise and physical trauma. Deafness can be sensorineural, where there is loss of cochlear hair cells, or conductive, where sound is muffled on its way to the inner ear. Read More

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http://journals.sagepub.com/doi/10.1177/1098612X17695062
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http://dx.doi.org/10.1177/1098612X17695062DOI Listing
March 2017
7 Reads

[Ototoxicity in head and neck cancers after radiotherapy and chemoradiotherapy: From primary prevention to tertiary prevention].

Cancer Radiother 2017 Feb 8;21(1):77-83. Epub 2017 Feb 8.

Département de radiothérapie, institut de cancérologie Lucien-Neuwirth, 108 bis, avenue Albert-Raimond, BP60008, 42271 Saint-Priest-en-Jarez cedex, France. Electronic address:

Each year, 15,000 head and neck cancer are treated in France. Prognosis is steadily improving. Consequently, limitation of late toxicities becomes essential. Read More

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http://dx.doi.org/10.1016/j.canrad.2016.08.130DOI Listing
February 2017
2 Reads

Identification of induced and naturally occurring conductive hearing loss in mice using bone conduction.

Hear Res 2017 03 4;346:45-54. Epub 2017 Feb 4.

Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, MA, USA; Department of Otolaryngology, Harvard Medical School, Boston, MA, USA. Electronic address:

While many mouse models of hearing loss have been described, a significant fraction of the genetic defects in these models affect both the inner ear and middle ears. A common method used to separate inner-ear (sensory-neural) from middle-ear (conductive) pathologies in the hearing clinic is the combination of air-conduction and bone-conduction audiometry. In this report, we investigate the use of air- and bone-conducted evoked auditory brainstem responses to perform a similar separation in mice. Read More

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http://dx.doi.org/10.1016/j.heares.2017.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5348262PMC
March 2017
2 Reads

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

Nat Biotechnol 2017 03 6;35(3):264-272. Epub 2017 Feb 6.

Department of Otolaryngology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Because there are currently no biological treatments for hearing loss, we sought to advance gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C). Read More

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http://dx.doi.org/10.1038/nbt.3801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340578PMC
March 2017
6 Reads

A narrative review of obesity and hearing loss.

Authors:
N Dhanda S Taheri

Int J Obes (Lond) 2017 07 6;41(7):1066-1073. Epub 2017 Feb 6.

Clinical Research Core, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.

The comorbidities related to obesity are already extensive, but as the prevalence of obesity increases globally, so do the number of its associated conditions. The relationship between hearing impairment and obesity is a relatively recent research interest, but is significant as both conditions have the ability to substantially reduce an individual's quality of life both physically and psychologically. Obesity has a significant effect on vascular function, and this may have an impact on highly vascular organs such as the auditory system. Read More

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http://dx.doi.org/10.1038/ijo.2017.32DOI Listing
July 2017
1 Read