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Objectives/Hypothesis: Evaluation of the clinical outcomes after 6 months of treatment with a novel adjustable implant, the APrevent® Vocal‐Implant‐System (VOIS), in conjunction with medialization thyroplasty (MT) in patients with unilateral vocal fold paralysis. Study Design: Prospective case series study at single tertiary referral center. Methods: Preoperative and 1 week, 7 weeks, and 6 months postoperative glottal efficiency (maximum phonation time [MPT]), voice quality (including GRBAS‐scores and acoustic parameters) and self‐perceived voice‐related handicap (voice handicap index [VHI‐30]) were measured and analyzed, whereas type of vocal fold closure was evaluated and determined by flexible videolaryngoscopy based on Södersten and Lindestad classification (Wilcoxon signed‐rank test). Results: Thirteen patients underwent MT with VOIS under local anesthesia. Six months after surgery, the VHI‐30 and MPT had improved from a preoperative mean of 75.0 ± 22.9 and 2.7 ± 2.1 s to a postoperative mean of 20.6 ± 19.7 and 6.3 ± 4.0 s, respectively. The mean GRBAS score improved from preoperative scores of Gpreop = 2.7, Rpreop = 2.6, Bpreop = 2.6, Apreop = 2.2, and Spreop = 2.0 to Gpostop = 0.3, Rpostop = 0.3, Bpostop = 0.2, Apostop = 0.2, and Spostop = 0.3 at 6 months postoperatively. Improved glottal closure was achieved in all patients (n = 13). Five patients received postoperative adjustment for the optimization of voice quality and glottal closure. No intra‐ or postoperative complications were observed. Significant improvements in acoustic parameters, including percentage jitter, percentage shimmer, and signal‐to‐noise ratio, were also observed after MT. All results were statistically significant (P <.05, Cohen's d >.8). Conclusions: APrevent® VOIS‐Implantation is a safe procedure with good voice outcomes. Postoperative adjustments can be performed smoothly to optimize voice quality and glottal closure. Level of Evidence: 3 Laryngoscope, 132:1622–1629, 2022 [ABSTRACT FROM AUTHOR]

Abstract Background Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family. Methods The Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis. Results Pure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects. Conclusion We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.

Background: Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family., Methods: The Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis., Results: Pure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects., Conclusion: We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.