Clinical and Experimental Otorhinolaryngology最新文献

Objectives: Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient's hearing.

Methods: We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement.

Results: A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband.

Conclusion: We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

Objectives: Neck recurrence of papillary thyroid cancer (PTC) is frequently detected after initial surgery. The management of these lesions may include rescue surgery (RS) or minimally invasive techniques in selected patients, but comparative studies evaluating the effectiveness and safety of these techniques are lacking. In this paper, we compared ultrasound-guided ethanol ablation (EA) in selected patients to RS in a matched cohort.

Methods: We retrospectively compared 41 patients and 41 matched PTC patients without known distant metastases, who underwent ultrasound-guided EA or RS (matched reference group), who had 63 and 75 thyroid bed and/or lymph node confirmed PTC recurrences during a median follow-up of 72.8 and 89.6 months, respectively. The primary outcome was time until structural recurrence, compared using Kaplan-Meier survival curves. The secondary outcomes included time until biochemical recurrence, plasma thyroglobulin (Tg) levels, American Thyroid Association (ATA) response-to-therapy categories by the last available observation, and treatment-derived complications in each group.

Results: No significant differences were found between the EA and RS groups for time until structural recurrence (log-rank test, P=0.94). The time until biochemical recurrence was also similar (P=0.51); and the plasma Tg concentration reduction and proportions of patients in the ATA reclassification categories were also similar. A significantly higher proportion of patients in the RS group presented treatment-derived complications (29.27% vs. 9.75%, P<0.05).

Conclusion: In this retrospective analysis, the treatment of PTC neck recurrence with EA in selected patients was comparable to RS in a matched reference group for the long-term risk of structural or biochemical relapse, but with a lower risk of treatment-derived complications. These.

Results: support the effectiveness and safety of this minimally invasive technique in the management of selected patients with recurrent PTC.

The Korean Society of Laryngology, Phoniatrics and Logopedics created a task force to establish clinical practice guidelines for the use of botulinum toxin (BT) in otolaryngology. We selected 10 disease categories: spasmodic dysphonia, essential vocal tremor, vocal fold granuloma, bilateral vocal fold paralysis, Frey's syndrome, sialocele, sialorrhea, cricopharyngeal dysfunction, chronic sialadenitis, and first bite syndrome. To retrieve all relevant papers, we searched the CORE databases with predefined search strategies, including Medline (PubMed), Embase, the Cochrane Library, and KoreaMed. The committee reported 13 final recommendations with detailed evidence profiles. The guidelines are primarily aimed at all clinicians applying BT to the head and neck area. In addition, the guidelines aim to promote an improved understanding of the safe and effective use of BT by policymakers and counselors, as well as in patients scheduled to receive BT injections.

Objectives: Tracheostomy is an important procedure for critically ill patients in the intensive care unit (ICU), and percutaneous dilatational tracheostomy (PDT) has gained popularity due to its safety and effectiveness. However, there are limited data comparing ultrasound-guided PDT (US-PDT) with surgical tracheostomy (ST). In our previous study, we reported that US-PDT had similar safety and effectiveness to ST, with a shorter procedure time. However, the study design was retrospective, and the sample size was small. Therefore, we conducted a randomized controlled trial to demonstrate the safety and efficacy of US-PDT compared to ST.

Methods: A total of 70 patients who underwent either US-PDT (n=35) or ST (n=35) were enrolled in the study between October 20, 2020 and July 26, 2022. The patients were randomly assigned to their respective procedures. The data collected included patient clinical characteristics, procedure time and details, complications, duration of ICU stay, time taken for weaning from mechanical ventilation, and hospital mortality.

Results: The procedure time of US-PDT was shorter than that of ST (4.0±2.2 minutes vs. 10.1±4.6 minutes). The incision length of US-PDT was also shorter than that of ST (1.5±0.5 cm vs. 1.8±0.4 cm). There were no statistically significant differences in demographics, procedure details, complications, length of ICU stay, ventilator weaning time, and hospital mortality.

Conclusion: US-PDT has a similar complication rate and shorter procedure time compared with ST. It can be safely and effectively performed in critically ill patients and can serve as a potential alternative to ST.

Objectives: Cochlear implants are widely used for hearing rehabilitation in patients with profound sensorineural hearing loss. However, Cochlear implants have variable.

Results: and central neural plasticity is considered to be a reason for this variability. We hypothesized that resting-state cortical networks play a role in conditions of profound hearing loss and are affected by cochlear implants. To investigate the resting-state neuronal networks after cochlear implantation, we acquired 18F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) images in experimental animals.

Methods: Eight adult domestic cats were enrolled in this study. The hearing threshold of the animals was within the normal range, as measured by auditory evoked potential. They were divided into control (n=4) and hearing loss (n=4) groups. Hearing loss was induced by co-administration of ethacrynic acid and kanamycin. FDG-PET was performed in a normal hearing state and 4 and 11 months after the deafening procedure. Cochlear implantation was performed in the right ear, and electrical cochlear stimulation was performed for 7 months (from 4 to 11 months after the deafening procedure). PET images were compared between the two groups at the three time points.

Results: Four months after hearing loss, the auditory cortical area's activity decreased, and activity in the associated visual area increased. After 7 months of cochlear stimulation, the superior marginal gyrus and cingulate gyrus, which are components of the default mode network, showed hypermetabolism. The inferior colliculi showed hypometabolism.

Conclusion: Resting-state cortical activity in the default mode network components was elevated after cochlear stimulation. This suggests that the animals' awareness level was elevated after hearing restoration by the cochlear implantation.

Objectives: Multiple minimally invasive techniques for chronic rhinitis treatment focus on posterior nasal nerve ablation. We conducted a systematic review and meta-analysis to evaluate the efficacy of cryotherapy and radiofrequency ablation for alleviating symptoms in patients with allergic and nonallergic rhinitis.

Methods: We retrieved studies from PubMed, Scopus, Embase, Web of Science, and Cochrane Database up to July 2023. Data on the impact of cryotherapy and radiofrequency ablation on quality of life and symptom ratings of rhinitis were extracted and evaluated.

Results: An analysis of 12 studies involving 788 patients demonstrated significant improvements in quality of life and rhinitis-related symptoms (nasal obstruction, itching, rhinorrhea, and sneezing) in patients treated with cryotherapy or radiofrequency ablation (symptom score at 24 months and quality of life score at 3 months). However, radiofrequency ablation had a more positive effect on nasal symptoms after 3 months than cryotherapy. Nonallergic rhinitis patients responded more favorably to posterior nerve ablation than patients with allergic rhinitis. Both techniques enhanced disease-specific quality of life during the initial 3 months of treatment (cryotherapy, 84.6%; radiofrequency, 81.6%; P=0.564). After 3 months of treatment, a clinical improvement in all nasal symptoms (minimal clinically important difference in the total nasal symptom score: >1.0 points) was seen in 81.8% and 91.9% of patients who underwent cryotherapy and radiofrequency ablation, respectively (P=0.005), suggesting that radiofrequency is more likely to lead to clinical improvement.

Conclusion: Rhinitis-associated subjective symptom scores and quality of life may be improved by both cryotherapy and radiofrequency ablation. Ablation was more efficacious than cryotherapy for nasal symptoms in patients with nonallergic rhinitis. To corroborate these findings, further randomized controlled studies directly comparing these two techniques are warranted.

Objectives: Acute low-tone sensorineural hearing loss (ALHL) is thought to have a different etiology from that of idiopathic sudden sensorineural hearing loss. We hypothesized that endolymphatic hydrops (EH) in the inner ear organ contributes to ALHL, even in patients without vertigo. This study investigated the presence of EH in ALHL and compared the clinical characteristics of patients with or without EH.

Methods: We retrospectively reviewed 38 patients diagnosed with ALHL without vertigo from January 2017 to March 2022. EH was measured in all patients using inner ear magnetic resonance imaging (MRI). In addition, we selected patients who showed only mid- or high-frequency hearing loss and had available MRI data as a control group and compared the ALHL and control groups.

Results: After treatment, the pure-tone average at low frequencies significantly improved compared to the initial hearing (P<0.001). Hearing recovery was observed in 63.1% of patients; however, the recovery rate did not differ based on the treatment method. During the follow-up period, six patients (15.8%) progressed to Meniere's disease, and 18 (47.4%) experienced recurrence. In the ALHL group, the cochlear hydrops ratio on the affected side (0.34±0.09) was significantly higher than on the contralateral side (0.29±0.12) (P=0.005), and most patients showed hydrops in the apex area of the cochlea. Compared with the control group (0.25±0.15), the ALHL group showed a significantly higher cochlear hydrops ratio (P=0.043). The correlation analysis showed a tendency for hearing thresholds at low frequencies to increase as the hydrops ratio increased, albeit without statistical significance.

Conclusion: The cochlear hydrops ratio, especially in the apex area on the affected side, was significantly higher in patients with ALHL, suggesting that EH in the cochlea contributes to the pathogenesis of ALHL.

Objectives: The aim of this study was to determine the most effective treatment approach by comparing the impacts of various otolith reduction techniques in patients with apogeotropic lateral semicircular canal benign paroxysmal positional vertigo (LC-BPPV).

Methods: We performed a multicenter randomized prospective study from January to December 2015, involving 72 consecutive patients with apogeotropic LC-BPPV. The patients were divided into three treatment groups: therapeutic head-shaking (group A), the Gufoni-Appiani maneuver (group B), and the cupulolith repositioning maneuver (CuRM; group C). Each group underwent evaluation and treatment up to the fourth week. Treatment success was defined as the disappearance of positional vertigo and nystagmus.

Results: This study included 72 patients (49 male and 23 female), with a mean (±standard deviation) age of 55.4±13.5 years. The mean duration of vertigo experienced prior to treatment was 3.9±4.4 days. The mean latency and duration of nystagmus were 2.7±3.0 seconds and 47.9±15.8 seconds, respectively. The overall treatment frequency was 2.0±0.9. The number of treatments differed significantly among the three groups (P<0.05). After 4 weeks, the success rates for groups A, B, and C were 90.5%, 92.3%, and 100%, respectively. No significant difference was observed in the success rate across treatment.

Methods: and periods (P>0.05). However, CuRM was the only method with a 100% treatment success rate.

Conclusion: While no clear difference was observed among the three treatments for LC-BPPV, CuRM was found to be superior to the other approaches in the long term.