SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II

Yamazaki, Hiroshi; Naito, Yasushi; Moroto, Saburo; Tamaya, Rinko; Yamazaki, Tomoko; Fujiwara, Kenshu; Ito, Juichi

doi:10.1016/j.ijporl.2014.10.038

Cited by 4 publications

(2 citation statements)

References 37 publications

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“…Fifty-nine articles (date range: 1993-2015) were included in this systematic review, of which 23 studies 11-33 had SP data and 57 studies 11-29,32…”

Section: Resultsmentioning

confidence: 99%

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Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings

Farhood

Nguyen

Miller

et al. 2017

Otolaryngol.--head neck surg.

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Objective (1) To analyze reported speech perception outcomes in patients with inner ear malformations who undergo cochlear implantation, (2) to review the surgical complications and findings, and (3) to compare the 2 classification systems of Jackler and Sennaroglu. Data Sources PubMed, Scopus (including Embase), Medline, and CINAHL Plus. Review Methods Fifty-nine articles were included that contained speech perception and/or intraoperative data. Cases were differentiated depending on whether the Jackler or Sennaroglu malformation classification was used. A meta-analysis of proportions examined incidences of complete insertion, gusher, and facial nerve aberrancy. For speech perception data, weighted means and standard deviations were calculated for all malformations for short-, medium-, and long-term follow-up. Speech tests were grouped into 3 categories-closed-set words, open-set words, and open-set sentences-and then compared through a comparison-of-means t test. Results Complete insertion was seen in 81.8% of all inner ear malformations (95% CI: 72.6-89.5); gusher was reported in 39.1% of cases (95% CI: 30.3-48.2); and facial nerve anomalies were encountered in 34.4% (95% CI: 20.1-50.3). Significant improvements in average performance were seen for closed- and open-set tests across all malformation types at 12 months postoperatively. Conclusions Cochlear implantation outcomes are favorable for those with inner ear malformations from a surgical and speech outcome standpoint. Accurate classification of anatomic malformations, as well as standardization of postimplantation speech outcomes, is necessary to improve understanding of the impact of implantation in this difficult patient population.

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“…Fifty-nine articles (date range: 1993-2015) were included in this systematic review, of which 23 studies 11-33 had SP data and 57 studies 11-29,32…”

Section: Resultsmentioning

confidence: 99%

“…Fifty‐nine articles (date range: 1993‐2015) were included in this systematic review, of which 23 studies 11‐33 had SP data and 57 studies 11‐29,32‐69 had surgical findings data, with a total of 213 patients with speech data and 692 with operative data. The search strategy is shown as a PRSIMA diagram in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings

Farhood

Nguyen

Miller

et al. 2017

Otolaryngol.--head neck surg.

View full text Add to dashboard Cite

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Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

Nishio

Usami

2017

Acta Oto-Laryngologica

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This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.

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2015

Nippon Jibiinkoka Gakkai Kaiho

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SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II

Cited by 4 publications

References 37 publications

Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings

Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review

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