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Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation. Methods: A chart review and a review of the literature. Results: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature. Conclusions: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant. [ABSTRACT FROM AUTHOR]

Background: Limited data are available to examine the effects of intensity‐modulated proton therapy (IMPT) on patient‐reported outcomes in patients with nasopharyngeal carcinoma (NPC). Thus, we assessed whether patients receiving IMPT reported a better short‐term quality of life (QoL) than those receiving volumetric‐modulated arc therapy (VMAT). Methods: We consecutively invited newly diagnosed NPC patients who had undergone standard treatment protocol within 2 years post‐radiotherapy at our institute between 2021 and 2023 to participate in the observational study. All participants completed the EuroQol five‐dimension, World Health Organization Quality‐of‐Life—Brief, Sinonasal Outcome Test 22, Eustachian Tube Dysfunction Questionnaire‐7, and Eating Assessment Tool‐10 (EAT‐10) questionnaires. QoL functions were estimated using a kernel‐smoothing method. A linear mixed model introducing the inverse probability of treatment weighting was constructed to estimate the effect of IMPT versus VMAT. Results: We identified 94 patients who completed 120 QoL assessments. Participants receiving IMPT were younger and had higher levels of education and higher household income. QoL functions showed that post‐treatment EAT‐10 scores consistently appeared significantly lower for IMPT than VMAT. After adjusting for factors including age, gender, education, household income, and cancer stages, patients receiving IMPT consistently showed significantly better QoL scores in EAT‐10, indicative of a medium effect. Additionally, factors such as age, household income level, and treatment regimen might influence either generic or condition‐specific QoL. Conclusions: Patients receiving IMPT demonstrated potentially improved eating‐related QoL compared to those receiving VMAT within a 2‐year post‐radiotherapy period. However, larger head‐to‐head comparison studies are warranted to confirm these findings. [ABSTRACT FROM AUTHOR]

Objective: To investigate the autonomic symptom burden in patients with sudden sensorineural hearing loss (SSNHL) and its association with the severity and prognosis. Study Design: Observational prospective study. Setting: Tertiary academic medical center. Methods: Patients diagnosed with SSNHL at a single medical center completed the COMPASS 31 questionnaire, which assesses dysautonomia across 6 domains with 31 questions. A total COMPASS 31 score was calculated by summing the scores from each weighted domain. The treatment outcome was evaluated by the percentage of recovery, calculated as the hearing gain in pure tone average (PTA) after treatment divided by the pretreatment PTA difference between the 2 ears. We defined poor recovery as a percentage of recovery <80%. Results: A total of 63 SSNHL patients were included. The mean COMPASS 31 score was 23.4 (SD 14). Patients with poor recovery had significantly higher COMPASS 31 scores than those with good recovery (mean 26.4 [SD 14.4] vs 16.9 [SD 10.4]; 95% confidence interval [CI] 2‐17). There was a negative association between COMPASS 31 score and both hearing gain (r = −.323, 95% CI −0.082 to −0.529) and percentage of recovery (r = −.365, 95% CI −0.129 to −0.562). Multivariate analyses of independent factors indicate that patients with higher COMPASS 31 scores had a greater risk for poor recovery (OR 1.06 [95% CI 1.003‐1.117]). Conclusion: This study highlights the association between autonomic symptom burden and poor hearing outcomes in SSNHL patients. The findings underscore the importance of evaluating autonomic function during the treatment of SSNHL. [ABSTRACT FROM AUTHOR]

Objectives: We compared the functional outcomes of fat myringoplasty and areolar tympanoplasty through a small postauricular incision in patients who underwent transcanal endoscopic ear surgery (TEES). Methods: The study included patients who underwent myringoplasty or type I tympanoplasty using TEES in our Department of Otolaryngology between April 2016 and May 2019. The patients were divided into 2 groups according to the type of graft material used, which was selected based on the available amount of subcutaneous fat and the surgeon's experience. Results: In total, 63 patients received fat tissue grafts (group A) and 77 received areolar tissue grafts (group B). The median operative time was significantly longer in group B (132 minutes) than in group A (65 minutes); perforations were significantly larger in group B than in group A (61.0% vs 29.7% of the eardrum surface). The postoperative air conduction threshold, air–bone gap, and speech reception threshold values were significantly lower than the preoperative values in both groups. The graft success rate did not significantly differ between groups A (96.8%, 61/63) and B (96.1%, 74/77). In group A, the perforation was > 35% of the eardrum surface in 27.0% (17/63) of the patients; the graft success rate was 100% (17/17). In the remaining 46 patients (perforation > 35%), the graft success rate was 95.7% (44/46); this difference was not statistically significant. Conclusions: Transcanal endoscopic ear surgery increases the usefulness of fat myringoplasty for the repair of perforations > 35% of the eardrum surface. Postauricular fatty and areolar tissues are suitable for this simple and rapid technique, which yields excellent outcomes. [ABSTRACT FROM AUTHOR]

Abstract Background Nasopharyngeal carcinoma (NPC) is well-known for its highly metastatic characteristics, but little is known of its molecular mechanisms. New biomarkers that predict clinical outcome, in particular the ability of the primary tumor to develop metastatic tumors are urgently needed. The aim of this study is to investigate the role of FLJ10540 in human NPC development. Methods A bioinformatics approach was used to explore the potentially important regulatory genes involved in the growth/metastasis control of NPC. FLJ10540 was chosen for this study. Two co-expression strategies from NPC microarray were employed to identify the relationship between FLJ10540 and osteopontin. Quantitative-RT-PCR, immunoblotting, and immunohistochemistry analysis were used to investigate the mRNA and protein expression profiles of FLJ10540 and osteopontin in the normal and NPC tissues to confirm microarray results. TW01 and Hone1 NPC cells with overexpression FLJ10540 or siRNA to repress endogenous FLJ10540 were generated by stable transfection to further elucidate the molecular mechanisms of FLJ10540-elicited cell growth and metastasis under osteopontin stimulation. Results We found that osteopontin expression exhibited a positive correlation with FLJ10540 in NPC microarray. We also demonstrated comprehensively that FLJ10540 and osteopontin were not only overexpressed in NPC specimens, but also significantly correlated with advanced tumor and lymph node-metastasis stages, and had a poor 5-year survival rate, respectively. Stimulation of NPC parental cells with osteopontin results in an increase in FLJ10540 mRNA and protein expressions. Functionally, FLJ10540 transfectant alone, or stimulated with osteopontin, exhibited fast growth and increased metastasis as compared to vehicle control with or without osteopontin stimulation. Conversely, knockdown of FLJ10540 by siRNA results in the suppression of NPC cell growth and motility. Treatment with anti-CD44 antibodies in NPC parental cells not only resulted in a decrease of FLJ10540 protein, but also affected the abilities of FLJ10540-elicited cell growth and motility in osteopontin stimulated-NPC cells. Conclusions These findings suggest that FLJ10540 may be critical regulator of disease progression in NPC, and the underlying mechanism may involve in the osteopontin/CD44 pathway.