Research & Literature

Progressive Hearing Loss and Head Trauma in Enlarged Vestibular Aqueduct: A Systematic Review and Meta-analysis.

Alemi AS, Chan DK

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2015; (153(4)):512-7 doi:10.1177/0194599815596343.

Patients with Pendred syndrome: is cochlear implantation beneficial?

van Nierop JW, Huinck WJ, Pennings RJ, et al.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2016; (41(4)):386-94 doi:10.1111/coa.12532.

Early deterioration of residual hearing in patients with SLC26A4 mutations.

Kim BG, Roh KJ, Park AY, et al.

The Laryngoscope 2016; (126(8)):E286-91 doi:10.1002/lary.25786.

Evaluation of the radiological criteria to diagnose large vestibular aqueduct syndrome.

El-Badry MM, Osman NM, Mohamed HM, Rafaat FM

International journal of pediatric otorhinolaryngology 2016; (81()):84-91.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C, Zheng H, Zhang S, et al.

Archives of endocrinology and metabolism 2016; (60(4)):323-7.

A nationwide study on enlargement of the vestibular aqueduct in Japan.

Noguchi Y, Fukuda S, Fukushima K, et al.

Auris, nasus, larynx 2017; (44(1)):33-39 doi:10.1016/j.anl.2016.04.012.

[Pendred syndrome and nonsyndromic related deafness: a same entity?].

Wemeau JL, Vincent C, Dubrulle F, Ladsous M

Bulletin de l'Academie nationale de medecine 2015; (199(4-5)):601-15; discussion 615-6.

Delayed diagnosis of Pendred syndrome.

Smith N, U-King-Im JM, Karalliedde J

BMJ case reports 2016; (2016()).

Diagnosis and Management of Congenital Sensorineural Hearing Loss.

Chen MM, Oghalai JS

Current treatment options in pediatrics 2016; (2(3)):256-265 doi:10.1007/s40746-016-0056-6.

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].

Markova TG, Geptner EN, Lalayants MR, et al.

Vestnik otorinolaringologii 2016; (81(6)):25-31 doi:10.17116/otorino201681625-31.

Pendred syndrome.

Wémeau JL, Kopp P

Best practice & research. Clinical endocrinology & metabolism 2017; (31(2)):213-224 doi:10.1016/j.beem.2017.04.011.

Hearing loss in enlarged vestibular aqueduct and incomplete partition type II.

Ahadizadeh E, Ascha M, Manzoor N, et al.

American journal of otolaryngology 2017; (38(6)):692-697 doi:10.1016/j.amjoto.2017.06.010.

Age at Intervention for Permanent Hearing Loss and 5-Year Language Outcomes.

Ching TYC, Dillon H, Button L, et al.

Pediatrics 2017; (140(3)) doi:10.1542/peds.2016-4274.

[Enlarged vestibular aqueduct in a ten-year-old girl].

Rasmussen SM, Johansen IR

Ugeskrift for laeger 2017; (179(44)).

[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

Mironovich OL, Bliznetz EA, Markova TG, et al.

Genetika 2017; (53(1)):88-99.

Should children with an enlarged vestibular aqueduct be restricted from playing contact sports?

Brodsky JR, Choi SS

The Laryngoscope 2018; (128(10)):2219-2220 doi:10.1002/lary.27119.

Vestibular Manifestations in Subjects With Enlarged Vestibular Aqueduct.

Song JJ, Hong SK, Lee SY, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018; (39(6)):e461-e467 doi:10.1097/MAO.0000000000001817.

Speech development in young children with Mondini dysplasia who had undergone cochlear implantation.

Qi S, Kong Y, Xu T, et al.

International journal of pediatric otorhinolaryngology 2019; (116()):118-124 doi:10.1016/j.ijporl.2018.10.013.

Audiometric findings in children with unilateral enlarged vestibular aqueduct.

Macielak RJ, Mattingly JK, Findlen UM, et al.

International journal of pediatric otorhinolaryngology 2019; (120()):25-29 doi:10.1016/j.ijporl.2019.01.034.

Lessons From an Analysis of Newborn Hearing Screening Data for Children With Cochlear Implants.

Lee JM, Lee HJ, Jung J, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019; (40(9)):e909-e917 doi:10.1097/MAO.0000000000002339.

Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing.

Kim MA, Kim SH, Ryu N, et al.

Theranostics 2019; (9(24)):7184-7199 doi:10.7150/thno.38032.

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Li M, Nishio SY, Naruse C, et al.

Nature communications 2020; (11(1)):1343 doi:10.1038/s41467-020-15198-9.

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.

Forli F, Lazzerini F, Auletta G, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2021; (278(7)):2305-2312 doi:10.1007/s00405-020-06333-9.

Pendred syndrome with hyperthyroidism.

Kusano Y

Journal of rural medicine : JRM 2020; (15(4)):217-220 doi:10.2185/jrm.2020-011.

Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.

Biggs K, Lovett A, Metcalfe C, et al.

The journal of international advanced otology 2020; (16(3)):432-442 doi:10.5152/iao.2020.9039.

Cochlear implantation in patients with Pendred syndrome.

Patterson TE, Gonzalez VB, Carron JD

American journal of otolaryngology 2021; (42(6)):103087 doi:10.1016/j.amjoto.2021.103087.

Cochlear Implantation in Pediatric Patients With Enlarged Vestibular Aqueduct: A Systematic Review.

Benchetrit L, Jabbour N, Appachi S, et al.

The Laryngoscope 2022; (132(7)):1459-1472 doi:10.1002/lary.29742.

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Tesolin P, Fiorino S, Lenarduzzi S, et al.

Genes 2021; (12(10)) doi:10.3390/genes12101569.

Effects of salicylate derivatives on localization of p.H723R allele product of SLC26A4.

Murakoshi M, Koike Y, Koyama S, et al.

Auris, nasus, larynx 2022; (49(6)):928-937 doi:10.1016/j.anl.2022.03.009.

Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides.

Feng P, Xu Z, Chen J, et al.

Molecular therapy. Nucleic acids 2022; (28()):280-292 doi:10.1016/j.omtn.2022.03.015.

The Impact of Post-Thyroidectomy Neck Stretching Exercises on Neck Discomfort, Pressure Symptoms, Voice and Quality of Life: A Randomized Controlled Trial.

Thorsen RT, Døssing H, Bonnema SJ, et al.

World journal of surgery 2022; (46(9)):2212-2222 doi:10.1007/s00268-022-06610-0.

Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction.

Sasaki T, Onaga R, Koshu R

BMJ case reports 2022; (15(6)) doi:10.1136/bcr-2022-250990.

SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl- Transport, and Inhibiting PI3K/Akt/mTOR Pathway.

Dai X, Li J, Hu X, et al.

BioMed research international 2022; (2022()):6496799 doi:10.1155/2022/6496799.

[Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct].

Zhao Z, Zhu Y, Fu Y, Jiang H

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2022; (36(10)):736-740 doi:10.13201/j.issn.2096-7993.2022.10.002.

Mental health symptoms and coping strategies among Ukrainians during the Russia-Ukraine war in March 2022.

Xu W, Pavlova I, Chen X, et al.

The International journal of social psychiatry 2023; (69(4)):957-966 doi:10.1177/00207640221143919.

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

Li YL, Gong FY, Dang ZY, et al.

European review for medical and pharmacological sciences 2023; (27(12)):5390-5396 doi:10.26355/eurrev_202306_32773.

Audiological and Speech Outcomes of Cochlear Implantation in Inner Ear Malformation Compared to the Normal Inner Ear.

Potdukhe K, Vishwakarma R, Rao S, Vishwakarma C

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2023; (75(3)):1870-1875 doi:10.1007/s12070-023-03760-y.

[The value of HRCT in predicting cerebrospinal fluid gusher during cochlear implantation].

Liu Z, Lin X, Huang H, et al.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2024; (38(5)):421-425 doi:10.13201/j.issn.2096-7993.2024.05.014.

Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report.

Miura A, Nakagawa T, Sogi C, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024; (33(4)):219-223 doi:10.1297/cpe.2023-0084.

[Auditory characteristics and disease progression trends of patients with common recessive deafness genes GJB2 and SLC26A4].

Dou MM, Guan J, Zhou R, et al.

Zhonghua yi xue za zhi 2024; (104(38)):3600-3603 doi:10.3760/cma.j.cn112137-20240329-00720.

Exploring the lived experiences and coping strategies of mental health caregivers in Ethiopia: implications for supportive interventions.

Shumet S, Zeleke EG

International journal of mental health systems 2026; (20(1)).

Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review.

Wu H, Xu J, Xu R, et al.

Frontiers in oncology 2026; (16()):1593186 doi:10.3389/fonc.2026.1593186.

Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.

Tsai YH, Wu PY, Chuang YC, et al.

The Journal of clinical investigation 2026; (136(8)).