The association between sialolithiasis and smoking, alcohol drinking and obesity in Korea: a nested case-control study.

BACKGROUND: Smoking and alcohol consumption are the most common social habits in patients with sialolithiasis. Moreover, obesity has been reported to have a significant association with poor oral hygiene, one of the causes of sialolithiasis. The purpose of this study was to evaluate the relationships among tobacco smoking, drinking alcohol, obesity and sialolithiasis in a Korean population. METHODS: The Korean National Health Insurance Service-Health Screening Cohort, which includes patients ≥40 years old, was assessed from 2002 to 2013. A total of 947 sialolithiasis participants were matched with 3788 control subjects at a ratio of 1:4 with respect to age group, sex, income group, region of residence, hypertension, diabetes, and dyslipidemia. We analyzed the participants' previous histories of smoking (current or past smokers compared to nonsmokers) and alcohol consumption (≥ 1 time per week compared to < 1 time per week) in the sialolithiasis and control groups. Obesity was measured using body mass index (BMI, kg/m2), which was categorized as < 18.5 (underweight), ≥ 18.5 and < 23 (normal), ≥ 23 and < 25 (overweight), ≥ 25 and < 30 (obese I), and ≥ 30 (obese II). Crude and adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using conditional logistic regression analyses. RESULTS: The rate of smoking was higher in the sialolithiasis group (32.4% [307/947]) than in the control group (29.1% [1103/3788], P = 0.047). The adjusted OR of smoking for the sialolithiasis group was 1.31 (95% CI = 1.08-1.59, P = 0.006). Alcohol consumption and obesity were not statistically significantly related to sialolithiasis. CONCLUSION: The odds of smoking were increased in sialolithiasis patients compared with control subjects in the population ≥ 40 years of age.

Prognostic value of the posterior cricoarytenoid muscle atrophy in computerized tomography scans for unilateral vocal fold paralysis recovery.

OBJECTIVES: To evaluate the prognostic value of the posterior cricoarytenoid (PCA) muscle atrophy observed on neck computed tomography (CT) in patients with unilateral vocal fold paralysis. METHODS: CT images of 87 subjects with unilateral vocal fold paralysis (UVFP) were evaluated to analyze the PCA muscle atrophy and to measure the severity of the PCA muscle atrophy in semi-quantitative manner. The grading of the PCA muscle atrophy was compared with the recruitment pattern of laryngeal electromyography (LEMG) and restoration of vocal fold movement. RESULTS: The PCA muscle was identifiable on CT in 73 subjects. Using the PCA muscle atrophy as an indicator of UVFP, we correctly predicted the paralysis in 69 (94.5%). Grade of the PCA muscle atrophy is significantly correlated with recruitment pattern of LEMG. If the positive result is defined as the PCA muscle showed moderate to severe degree of atrophy, we could predict the persistent UVFP in 88% of patients. CONCLUSIONS: PCA muscle atrophy identified on CT scan in patients with UVFP, is associated with low rates of return of mobility in the affected vocal fold.

Prognostic factors for prediction of follow-up outcome of contact granuloma.

Although the frequent spontaneous resolution of contact granuloma is reported, the prognostic factor that can predict the possibility of resolution is not clear. We retrospectively analyzed the hospital records and laryngoscopic photos of 52 patients who were diagnosed with contact granuloma between May 2003 and June 2012. The reflux finding score and the shape of the granuloma were analyzed based on the initial laryngoscopy images; additionally, age, gender, chief complaint, and the side afflicted were also analyzed. Of the 52 patients, 40 who were treated conservatively were analyzed. Their mean age was 57.6 years and the mean follow-up period was 28.6 weeks. There was male predominance (87.5%), and the left side was more commonly afflicted (60.0%). Factors significantly associated with resolution included width/height ratio (P = 0.012) and gender (P = 0.048), but not reflux finding score (P = 0.713) or etiology (P = 0.382). So with this data, resolution of contact granuloma is highly probable in cases where the granuloma has a narrow base and the gender is female.

Clinical Practice Guidelines for Oropharyngeal Dysphagia.

OBJECTIVE: Dysphagia is a common clinical condition characterized by difficulty in swallowing. It is sub-classified into oropharyngeal dysphagia, which refers to problems in the mouth and pharynx, and esophageal dysphagia, which refers to problems in the esophageal body and esophagogastric junction. Dysphagia can have a significant negative impact one's physical health and quality of life as its severity increases. Therefore, proper assessment and management of dysphagia are critical for improving swallowing function and preventing complications. Thus a guideline was developed to provide evidence-based recommendations for assessment and management in patients with dysphagia. METHODS: Nineteen key questions on dysphagia were developed. These questions dealt with various aspects of problems related to dysphagia, including assessment, management, and complications. A literature search for relevant articles was conducted using Pubmed, Embase, the Cochrane Library, and one domestic database of KoreaMed, until April 2021. The level of evidence and recommendation grade were established according to the Grading of Recommendation Assessment, Development and Evaluation methodology. RESULTS: Early screening and assessment of videofluoroscopic swallowing were recommended for assessing the presence of dysphagia. Therapeutic methods, such as tongue and pharyngeal muscle strengthening exercises and neuromuscular electrical stimulation with swallowing therapy, were effective in improving swallowing function and quality of life in patients with dysphagia. Nutritional intervention and an oral care program were also recommended. CONCLUSION: This guideline presents recommendations for the assessment and management of patients with oropharyngeal dysphagia, including rehabilitative strategies.

Association between Thyroid Cancer and Breast Cancer: Two Longitudinal Follow-Up Studies Using a National Health Screening Cohort.

Background: The purpose of this study was to evaluate the association between thyroid cancer and breast cancer. Methods: Data from the Korean National Health Insurance Service-Health Screening Cohort were collected from 2002 to 2013. In study I, 3949 thyroid cancer participants were 1:4 matched with 15,796 control I participants, and hazard ratios (HRs) with 95% confidence intervals (CIs) for breast cancer were evaluated using a stratified Cox proportional hazard model. In study II, 3308 breast cancer participants were 1:4 matched with 13,232 control II participants, and HRs with 95% CIs for thyroid cancer were assessed in the same way as in study I. In the subgroup analyses, associations were analyzed according to radioactive iodine (RAI) treatment and age (<60 years old and ≥60 years old). Results: The adjusted HR for breast cancer in the thyroid cancer group was 1.64 (95% CI = 1.13-2.39, p = 0.010). The adjusted HR for thyroid cancer in the breast cancer group was 1.91 (95% CI = 1.47-2.49, p < 0.001). In the subgroup analyses, the groups that were older and not treated with RAI treatment showed consistent results in study I, and the younger and older groups showed consistent results in study II. Conclusions: Based on this cohort study, breast and thyroid cancer have a reciprocal positive association.

Association between Thyroid Cancer and Weight Change: A Longitudinal Follow-Up Study.

BACKGROUND: The purpose of this study was to evaluate body mass index (BMI) and systolic blood pressure (SBP)/diastolic blood pressure (DBP) between Korean adults who underwent thyroidectomy and comparison groups. METHODS: Data were included from the Korean National Health Insurance Service-Health Screening Cohort (2002-2015). BMI and SBP/DBP were measured before thyroidectomy, 1 and 2 years after thyroidectomy (n = 1995 in study I, n = 2162 in study II), comparing 1:4 matched participants (n = 7980 in study I, n = 8648 in study II). The paired t-test and linear mixed model were used to identify the differences between groups. RESULTS: DBP in both thyroid cancer II and comparison II group were significantly lower after thyroidectomy than before thyroidectomy. However, the interaction effect of thyroidectomy in study I and study II did not reach statistical significance. CONCLUSION: BMI, SBP and DBP were not significantly different between the thyroidectomy group and the matched comparison group.

Analysis of the Association between Female Medical History and Thyroid Cancer in Women: A Cross-Sectional Study Using KoGES HEXA Data.

The purpose of this study was to evaluate the association between female medical history and thyroid cancer. Methods: Data from the Korean Genome and Epidemiology Study were collected from 2004 to 2016. Among a total of 1303 participants with thyroid cancer and 106,602 control (non-thyroid cancer) participants, the odds ratios (ORs) with 95% confidence intervals (CIs) of hysterectomy, oophorectomy, use of oral contraceptives, and number of children were evaluated. Results: The adjusted OR of hysterectomy for thyroid cancer was 1.73 (95% CI = 1.48-2.01, p < 0.001) in the minimally adjusted model. The adjusted ORs for thyroid cancer were 1.89 (95% CI = 1.06-3.37, p = 0.031), 0.89 (95% CI = 0.83-0.94, p < 0.001), and 0.85 (95% CI = 0.73-0.99, p = 0.040) for bilateral oophorectomy, number of children, and use of oral contraceptives, respectively, in the fully adjusted model. In the subgroup analysis, the adjusted ORs of bilateral oophorectomy were significant in the younger age (OR = 3.62, 95% CI = 1.45-9.03, p = 0.006), while the number of children was significant in the older age (OR = 0.86, 95% CI = 0.80-0.93, p < 0.001). Conclusions: The ORs of hysterectomy and bilateral oophorectomy were significantly higher in the thyroid cancer group in the younger age group. The adjusted ORs of the number of children were significantly low in the older age group.

Analyses of the Association between Thyroid Cancer and Osteoporosis/Fracture Histories: A Cross-Sectional Study Using KoGES HEXA Data.

(1) Background: The purpose of this study was to determine the association among thyroid cancer, osteoporosis and fracture history. (2) Methods: The data collected from 2004 through 2016 for the Korean Genome and Epidemiology Study were retrieved. For a total of 1349 participants with thyroid cancer and 163,629 control participants, the odds ratios (ORs) with 95% confidence intervals (CIs) of osteoporosis and fracture history were evaluated using a logistic regression model. (3) Results: The adjusted ORs of osteoporosis comparing thyroid cancer with the control group were 1.41 (95% CI = 1.18-1.70, p < 0.001) for all participants and 1.43 (95% CI = 1.19-1.71, p < 0.001) for women. The adjusted ORs of fracture history comparing these two groups were not significantly associated within the entire group of participants, men only or women only. (4) Conclusions: The adjusted OR of osteoporosis was significantly higher than 1, comparing thyroid cancer with the control group, especially in women. The adjusted OR of fractures was not significantly higher than 1, comparing the thyroid cancer group with the control group.

Mortality and cause of death in patients with tracheostomy: Longitudinal follow-up study using a national sample cohort.

BACKGROUND: The purpose of this study was to evaluate the long-term mortality and cause of death in patients with tracheostomy. METHODS: Data from the Korean National Health Insurance Service-Health Screening Cohort were collected from 2002 to 2013. A total of 2394 tracheostomy participants and 9536 control participants were included in this study. The crude and adjusted hazard ratios (HRs) for tracheostomy-associated mortality were analyzed. Subgroup analysis according to age and cause of death was analyzed. RESULTS: The tracheostomy group showed a significantly higher rate of death (69.1%) than the nontracheostomy group (13.3%). The adjusted HR for mortality was 13.5 in the tracheostomy group. The most common cause of death after tracheostomy was a circulatory disease, followed by neoplasm, respiratory disease, and trauma. CONCLUSIONS: Patients with tracheostomy had a significantly increased long-term mortality rate compared with patients with nontracheostomy. The circulatory disease was the most common cause of death following tracheostomy.

Comparative impact of fear appeals and induced hypocrisy advertising in encouraging intent to quit smoking: Applying self-construal theory to consumers' attitudes.

This study examined the effect of induced hypocrisy as a new anti-smoking advertisement approach on smokers' attitudes toward advertisements and their attitudes and intentions toward smoking cessation. It also comparatively analysed the effects of this tactic against those of the fear appeals that have traditionally been used in anti-smoking campaigns. The findings showed highly positive effects from induced hypocrisy on smoker attitudes and intentions toward cessation. Comparison of fear appeals and induced hypocrisy advertising on cessation showed stronger effects from the former on cessation intentions, although not to a statistically significant degree. When smokers were categorised according to self-construal, stronger cessation attitudes and intentions were found among those belonging to the 'interdependent self' group than among those in the 'independent self' group. Theoretical and practical implications for anti-smoking advertising are also discussed.

Increased risk of herpes zoster in patients with peptic ulcers: A longitudinal follow-up study using a national sample cohort.

The purpose of this study was to investigate the association of herpes zoster infection with peptic ulcer disease in a Korean population.The Korean National Health Insurance Service selects samples directly from the entire Korean population database, and 1,125,691 participants with 114,369,638 medical claim codes were selected from the entire Korean population (50 million). A total of 127,802 peptic ulcer disease participants were matched with 127,802 control participants at a ratio of 1:1, considering age group, sex, income group, region of residence, hypertension, diabetes, and dyslipidemia. We analyzed stratified Cox proportional hazard models to calculate the hazard ratios of peptic ulcer with respect to herpes zoster. For subgroup analyses, we divided the participants by age, sex, and time periods after the index date.The rate of herpes zoster was higher in the peptic ulcer group (9.1% [11,669/127,802]) than in the control group (7.4% [9,397/127,802], P < .001). The adjusted hazard ratio of herpes zoster was 1.24 (95% CI = 1.21-1.28, P < .001). In subgroup analyses performed according to age and sex, all crude and adjusted hazard ratios of herpes zoster were higher in the peptic ulcer disease group than in the control group (each P < .05). In another subgroup analysis according to follow-up periods, the crude and adjusted hazard ratios of herpes zoster were higher in the peptic ulcer disease group than in the control group except for < 1 year periods after the index dates (each P < .001).The hazard ratios of herpes zoster were significantly increased in the peptic ulcer group compared with those in the control group in all age and sex groups.

Natural Course of Unilateral Vocal Fold Paralysis and Optimal Timing of Permanent Treatment.

Importance: Permanent surgical treatment for unilateral vocal fold paralysis (UVFP) should be performed when further neural recovery is improbable. Conservative delay of the surgical procedure may cause unnecessary deterioration of the patient's quality of life. Knowledge of the natural course of UVFP is important for better management and counseling. Objective: To evaluate the natural course of UVFP, focusing on the recovery time according to the injury level to assess the optimal timing for permanent surgical intervention. Design, Setting, and Participants: This retrospective case series enrolled 1264 patients with UVFP who visited the voice clinic of Seoul National University Hospital, Seoul, Korea, from November 1, 2005, through December 31, 2016. Medical records and stroboscopic video images were reviewed to obtain data on demographic characteristics, vocal fold movement, onset and recovery time, follow-up duration, and cause. Cases of UVFP were classified into 5 groups based on the location of injury: distal to the thyroid level, thyroid level, esophagus and mediastinum level, heart and lung level, and proximal to the thorax level. Data analysis was performed from January 23, 2018, to May 21, 2018. Main Outcomes and Measures: Recovery of vocal fold movement defined as more than vocal fold twitching confirmed by stroboscopy video images, estimated injury level, and start time of recovery. The recovery time was analyzed according to age, sex, paralytic side, and 5 injury levels. Results: Of 1264 eligible patients with UVFP (655 [51.8%] male; median age, 56 years [range, 1-90 years]), 208 had evidence of recovery with the recovery time relatively accurate. The maximum recovery time for the group with distal to the thyroid-level injury was 120 days; the group with thyroid-level injury, 157 days; the group with esophagus and mediastinum-level injury, 244 days; the group with heart and lung-level injury, 328 days; and the group with proximal to the thorax-level injury, 333 days with the exception of 1 outlier value (482 days). Recovery time did not differ according to age, sex, or paralytic side. As distance between the vocal fold and injury level increased, the maximum recovery time increased, plateauing at 1 year. Among the patients who showed recovery of the vocal fold movement, most patients with injuries distal to or at the level of the thyroid recovered within 6 months, whereas those with injury more distant from the vocal fold recovered within approximately 1 year. Conclusions and Relevance: A linear association between injury level and maximum recovery time was observed. The findings suggest that the decision to proceed with permanent phonosurgical treatment should be based on the level of injury associated with UVFP.

Conservative treatment for cutaneous fistula resulted from abscess formation in patients with tuberculous cervical lymphadenitis.

OBJECTIVE: This study describes the clinical characteristics and course of conservative treatment using anti-Tb medication and dressing in patients with tuberculous cervical fistula resulting from abscess formation, and to investigate factors prognostic of dressing and treatment duration. METHODS: The medical records of patients with tuberculous cervical lymphadenitis were reviewed, and 38 of these patients who presented with cutaneous fistula that resulted from abscess formation were included in the study. RESULTS: The mean duration of dressing until fistula closure was 3.7±2.0months (range 0.2-8.5), and the mean duration of treatment with anti-Tb medication was 10.6±2.6months (range 6.0-16.0). Patients with concomitant Tb, beyond the cervical lymph nodes showed significantly prolonged duration of dressing (4.6 months vs. 3.2 months, p=0.025) and anti-Tb medication (11.8 months vs. 9.8 months, p=0.015). CONCLUSION: Our results indicate that about 3.7 months of dressing was required for fistula closure. Tuberculous cervical lymphadenitis patients with fistula who had Tb beyond the cervical lymph nodes could be expected to require dressing for 4.6 months and prolonged and anti-Tb medication treatment.

Role of Frozen Biopsy in Glottic Premalignant Lesions.

Frozen biopsies are frequently used for decision making during surgery. This study aimed to evaluate the efficacy of frozen biopsy for guiding decision making before laser excision of glottic premalignant lesions. One hundred patients with 119 laser excisions were included in this study and reviewed retrospectively. After frozen biopsy, type I or II cordectomy was performed and the frozen result and final pathology of the excisional specimen were compared. The positive predictive value of frozen biopsy when the diagnosis is benign or malignant was relatively high (80.8 and 88.9 %, respectively) but the positive predictive value of a dysplasia or carcinoma in situ result was quite low (18.2 and 16.7 %). Under-diagnosis was frequent for dysplasia or carcinoma in situ (69.7 and 83.3 %). In particular, for lesions with suspicious features, lesions with dysplasia or carcinoma in situ had a much higher rate of under-diagnosis (81.8 and 100 %). Frozen biopsy was not reliable because the overall coincidence rate between final pathology and frozen biopsy was 63 %. Although a frozen biopsy result of a benign or malignant result was reliable, a dysplasia or carcinoma in situ result on frozen biopsy had a high risk of being an under-diagnosis.

Outcomes and limitations of hospital-based newborn hearing screening.

OBJECTIVES: Globally, newborn hearing screening (NHS) is variably incorporated into national healthcare systems. The authors reviewed the set-up and evolution process of a hospital-based NHS program in South Korea, where screening costs for low-income families are paid by the National Health Authority. METHODS: The NHS process for 13805 newborns delivered in a tertiary referral center of South Korea from 2005 through 2014 was reviewed. Hearing screening was conducted using automated auditory brainstem response (AABR); hearing loss was confirmed by auditory brainstem response for newborns who did not pass the screening test. RESULTS: The mean screening rate for hearing loss was 53.6% (7403 of 13805 newborns), which plateaued at 79.6% over time. Of the 14806 ears (7403 newborns), 1030 (7.0%) were assessed as "refer" on the first AABR, with 204 (1.4%) being assessed as "refer" on the second AABR. In hearing confirmation tests, 74 infants (1.0% of 7403 newborns) were diagnosed with hearing loss, including 13 infants (0.2%) with bilateral moderate to profound sensorineural hearing loss (SNHL). Hearing rehabilitation with long-term follow-up was confirmed in 11 infants. CONCLUSIONS: In this hospital-based NHS program, the screening rate plateaued at ∼50% when the National Health Authority was not involved, but increased to ∼70% when the cost for low-income families was covered by the government. Among infants needing active hearing rehabilitation due to bilateral moderate to profound SNHL, 15% were lost to follow-up. These results demonstrate the need for a universal, mandatory NHS program to systematically register hearing-impaired infants within the government-sponsored public healthcare system.

Anti-inflammatory and Antibacterial Effects of Covalently Attached Biomembrane-Mimic Polymer Grafts on Gore-Tex Implants.

Expanded polytetrafluoroethylene (ePTFE), also known as Gore-Tex, is widely used as an implantable biomaterial in biomedical applications because of its favorable mechanical properties and biochemical inertness. However, infection and inflammation are two major complications with ePTFE implantations, because pathogenic bacteria can inhabit the microsized pores, without clearance by host immune cells, and the limited biocompatibility can induce foreign body reactions. To minimize these complications, we covalently grafted a biomembrane-mimic polymer, poly(2-methacryloyloxylethyl phosphorylcholine) (PMPC), by partial defluorination followed by UV-induced polymerization with cross-linkers on the ePTFE surface. PMPC grafting greatly reduced serum protein adsorption as well as fibroblast adhesion on the ePTFE surface. Moreover, the PMPC-grafted ePTFE surface exhibited a dramatic inhibition of the adhesion and growth of Staphylococcus aureus, a typical pathogenic bacterium in ePTFE implants, in the porous network. On the basis of an analysis of immune cells and inflammation-related factors, i.e., transforming growth factor-ß (TGF-ß) and myeloperoxidase (MPO), we confirmed that inflammation was efficiently alleviated in tissues around PMPC-grafted ePTFE plates implanted in the backs of rats. Covalent PMPC may be an effective strategy for promoting anti-inflammatory and antibacterial functions in ePTFE implants and to reduce side effects in biomedical applications of ePTFE.

Trichloroacetic Acid Chemocauterization: A Simple Method to Close Small Tracheocutaneous Fistula.

OBJECTIVES: To evaluate the effectiveness of chemocauterization using trichloroacetic acid with or without suturing for the small tracheocutaneous fistula closure METHODS: The Seoul National University Hospital database was analyzed retrospectively for 55 patients with a small tracheocutaneous fistula measuring less than 5 × 5 mm(2). Of these, 39 patients were treated by chemocauterization only, and 16 patients were treated by chemocauterization with suturing. Demographic, perioperative data, and treatment outcomes were evaluated for all patients. RESULTS: The success rate of single trial was 56.4% (31/55), and the final success rate after repeated procedures if indicated was 80.0% (44/55). There were no statistically significant differences in age, sex, cannulation period, fistula size, presence or absence of maturation suture during tracheostomy, number of procedures, and success rates. Interval between decannulation and procedure was significantly different among 2 groups. CONCLUSIONS: Trichloroacetic acid chemocauterization could be a simple, noninvasive, and safe method to close small tracheocutaneous fistula.

Feasibility of super-selective neck dissection for indeterminate lateral neck nodes in papillary thyroid carcinoma.

BACKGROUND: Therapeutic lateral compartment neck dissection is recommended for cases of papillary thyroid carcinoma with biopsy-proven lymph node metastasis. The purpose of this study was to evaluate the efficacy and safety of super-selective neck dissection for patients with clinically suspicious lymph node metastasis not confirmed by biopsy. METHODS: Among 620 patients treated for papillary thyroid carcinoma between 2008 and 2010, 34 had suspicious lymph node enlargement in the lateral neck and underwent total thyroidectomy with super-selective neck dissection. RESULTS: Metastatic disease was confirmed in 38.2% patients (13 of 34) with indeterminate lymph nodes identified by preoperative CT and/or ultrasonography who underwent super-selective neck dissection. Most harvested lymph nodes were located at level IV. There was no recurrence during a mean follow-up period of 31.6 months. CONCLUSION: Patients with clinically suspicious lateral neck nodes that are not confirmed by biopsy may be good candidates for super-selective neck dissection, which had minimal morbidity and did not compromise oncologic outcomes.

Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.

PURPOSE: (1) To describe the frequency of the OTOF mutations among Korean ARNSHL (autosomal recessive nonsyndromic hearing loss) populations; (2) to report the vertical transmission of DFNB9 in a family, where two related DFNB9 patients in the family manifested a different audiological phenotype. METHOD: We analyzed the prevalence of OTOF mutations among 71 Korean sporadic or possible ARNSHL pediatric patients, as well as among AN/AD (auditory neuropathy/auditory dys-synchrony) patients by direct PCR (polymerase chain reaction) sequencing or targeted resequencing of known deafness genes. RESULTS: The AN/AD phenotype which was characterized by preservation of OAE (otoacoustic emission) was present in 5 (7%) of 71 probands, and the prevalence of OTOF mutations was calculated to be 20% (1/5) and 1.4% (1/71) among AN/AD patients and total sporadic/ARNSHL patients, respectively. PJVK mutations did not account for Non-DFNB9 AN/AD patients. To our interest, the only proband (SB4-11) with two OTOF mutant alleles in our cohort had deaf parents, who also turned out to be DFNB9. We identified a novel splice site variant of OTOF from the mother (SB4-13) of SB4-11. This was the first observation of vertical transmission of DFNB9 phenotype from parents to son in this population where the prevalence of OTOF is very low and consanguineous marriage is not allowed. Another DFNB9 patient (SB4-12), the father of SB4-11, carried a homozygous p.Y374X mutation that affected only the long isoform of OTOF and did not manifest AN/AD. CONCLUSION: The OTOF mutations do not contribute significantly to Korean ARNSHL and AN/AD unlike in Japan and Taiwan. This low prevalence mandates a search for other etiologies. Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation.