The French way of voice rehabilitation post total laryngectomy: current clinical practices and tendencies.

BACKGROUND: Vocal rehabilitation post total laryngectomy (TL) lacks clinical guidelines, especially with the presence of multiple modalities. OBJECTIVES: To describe the tendencies of vocal rehabilitation post TL in France and compare it with other countries. We try to identify the most practiced modalities and recognize statistically significant influencing factors. MATERIALS AND METHODS: An electronic anonymous survey was answered by 75 ENT surgeons from France. The survey outlined the common practiced vocal rehabilitation modalities and had two versions depending on if the participant practices the tracheoesophageal speech (TES) or not. RESULTS: 96% use TES in their practice. Single modality TES and double modality TES with esophageal speech (ES) are the two most practiced modalities. 99% agreed that there is no age limit for the TES. Single modality ES was offered 92% more when more than 10 TL were performed per year (p < .05). No influencing factors found for single modality TES or double modality TES with ES (p > .05).Conclusion: In line with tendencies from other countries, the TES is the most practiced modality of vocal rehabilitation coupled or not with the ES. TES has no age limit as per our participants. The least practiced modality is the singe modality ALS.

ABCA7 loss-of-function variants, expression, and neurologic disease risk.

OBJECTIVE: To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS: We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis groups. We measured brain ABCA7 protein and messenger RNA (mRNA) levels using Western blot and quantitative PCR, respectively, in 11 carriers of the 3 most common variants, and sequenced all 47 ABCA7 exons in these participants to screen for other coding variants. RESULTS: At least one of the investigated variants was identified in 45 participants with late-onset Alzheimer disease, 12 participants with other neuropathologies, and 11 elderly controls. Association analysis revealed a significantly higher burden of these variants in participants with AD (p = 5.00E-04) and those with other neuropathologies (p = 8.60E-03) when compared with controls. Concurrent analysis of brain ABCA7 mRNA and protein revealed lower protein but not mRNA in p.L1403fs carriers, lower mRNA but not protein in p.E709fs carriers, and additional deleterious mutations in some c.5570+5G>C carriers. CONCLUSIONS: Our results suggest that LOF may not be a common mechanism for these ABCA7 variants and expand the list of neurologic diseases enriched for them.