Purpose: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. Materials and Methods: Forty-seven patients clinically suspected of having PCD were enrolled at a tertiary medical center. WES was performed in all patients, and seven patients received biopsy of cilia and transmission electron microscopy (TEM). Results: Overall, PCD was diagnosed in 10 (21.3%) patients: eight by WES (8/47, 17%), four by TEM. Among patients diagnosed as PCD based on TEM results, two patients showed consistent results with WES and TEM of PCD (2/4, 50%). In addition, five patients, who were not included in the final PCD diagnosis group, had variants of unknown significance in PCD-related genes (5/47, 10.6%).The most frequent pathogenic (P)/likely pathogenic (LP) variants were detected in DNAH11 (n=4, 21.1%), DRC1 (n=4, 21.1%), and DNAH5 (n=4, 21.1%). Among the detected 17 P/LP variants in PCD-related genes in this study, 8 (47.1%) were identified as novel variants. Regarding the genotype–phenotype correlation in this study, the authors experienced severe PCD cases caused by the LP/P variants in MCIDAS, DRC1, and CCDC39. Conclusion Through this study, we were able to confirm the value of WES as one of the diagnostic tools for PCD, which increases with TEM, rather than single gene tests. These results will prove useful to hospitals with limited access to PCD diagnostic testing but with relatively efficient in-house or outsourced access to genetic testing at a pre-symptomatic or early disease stage.

Objective: This study assessed the reliability and validity of the Stress and Anxiety to Viral Epidemics–9 items (SAVE-9) and Stress and Anxiety to Viral Epidemics–6 items (SAVE-6) scales for measuring viral anxiety among firefighters during the coronavirus disease-2019 pandemic. Methods: An online survey was conducted among 304 firefighters assigned in Gyeonggi-do. The SAVE-9 scale, initially developed for healthcare workers, was adapted for firefighters. We compared it with the SAVE-6 scale designed for the general population among the firefighters sample. The confirmatory factor analysis (CFA) was conducted to explore the factor structure of both scales. Internal consistency reliability was checked using Cronbach’s alpha and McDonald’s omega. Convergent validity was assessed in accordance with the Patient Health Questionnaire–9 and Generalized Anxiety Disorder–7 scales. Results: The SAVE-9 scale demonstrated a Cronbach alpha of 0.880, while the SAVE-6 scale yielded an alpha of 0.874. CFA indicated good model fits for both SAVE-9 and SAVE-6 scales among firefighters sample. The SAVE-9 and SAVE-6 comparably measures viral anxiety of firefighters. Conclusion Both of the SAVE-9 and SAVE-6 scales are reliable and valid instruments for assessing viral anxiety among firefighters during the pandemic.

Objective: This study aimed to explore the mediating effects of cancer-related dysfunctional beliefs regarding sleep and intolerance of uncertainty on the effect of depression, insomnia, and anxiety on fear of progression (FoP). Methods: We retrospectively reviewed medical records of patients with cancer who visited the Sleep Clinic for cancer patients in Asan Medical Center for the first time between December 2021 and March 2022. Data collected included age, sex, types of cancer, staging, current treatment modalities, and history of surgical procedures. In addition, psychological symptoms were rated using the Insomnia Severity Scale (ISI), Patient Health Questionnaire–9 items (PHQ-9), State subcategory of the State and Trait of Anxiety Inventory (STAI-S), Short form of Fear of Progression Questionnaire, Cancer-related Dysfunctional Beliefs about Sleep scale (C-DBS), single item of pain and fatigue, Connor Davidson Resilience Scale 2-item (CD-RISC2), and Intolerance of Uncertainty–12 (IUS-12). The predictive variables for FoP were determined by linear regression analysis. Results: The FoP was significantly correlated with age (r=-0.289), ISI (r=0.178), PHQ-9 (r=0.703), STAI-S (r=0.377), fatigue (r=0.452), CD-RISC2 (r=-0.270), IUS-12 (r=0.585), and C-DBS (r=0.427, all p<0.01). A mediation analysis showed that intolerance of uncertainty and dysfunctional beliefs about sleep mediated the relationship of FoP with insomnia, depression, or anxiety. Conclusion Psychological support for intolerance of uncertainty and cancer-related dysfunctional beliefs about sleep in patients with cancer may be beneficial to reduce their FoP.

Background/Aims: Controversy regarding the effectiveness of neoadjuvant therapy for resectable pancreatic ductal adenocarcinoma (PDAC) still exists. Here, we aimed to identify the potential benefits of neoadjuvant therapy followed by surgery for resectable PDAC. Methods: We reviewed radiologically resectable PDAC patients who received resection with curative intent at a tertiary hospital in South Korea between January 2012 and August 2019. A total of 202 patients underwent curative resection for resectable PDAC: 167 underwent surgical resection first during this period, and 35 received neoadjuvant chemotherapy/chemoradiation therapy followed by surgery. Resectable PDAC patients were subdivided, and 1:3 propensity score matching (PSM) was performed to reduce selection bias. Results: Compared with the group that received surgery first, the group that received neoadjuvant treatment followed by surgery had significantly smaller tumors (22.0 mm vs 27.0 mm, p=0.004), a smaller proportion of patients with postoperative pathologic T stage (p=0.026), a smaller proportion of patients with lymphovascular invasion (20.0% vs 40.7%, p=0.022), and a larger proportion of patients with negative resection margins (74.3% vs 51.5%, p=0.049). After PSM, the group that received neoadjuvant therapy had a significantly longer progression-free survival than those in the group that underwent surgery first (29.6 months vs 15.1 months, p=0.002). Overall survival was not significantly different between the two groups after PSM analysis. Conclusions We observed significantly better surgical outcomes and progression-free survival with the addition of neoadjuvant therapy to the management of resectable PDAC. However, despite PSM, there was still selection bias due to the use of different regimens between the groups receiving surgery first and neoadjuvant therapy. Large homogeneous samples are needed in the future prospective studies.

Background: Hearing loss (HL) has been suggested to be associated with impaired microcirculation of the inner ear. This cross-sectional study aimed to evaluate an association between HL and serum lipid levels. Methods: The study comprised 10,356 Korean adults who participated in the fifth Korea National Health and Nutrition Examination Survey (2010–2012). We defined HL as the average hearing thresholds exceeding 25 dB at predetermined frequency levels by pure tone audiometry. Serum lipid levels were measured using an enzymatic assay. The associations between lipid levels and HL were evaluated using a multiple logistic regression model after adjusting for covariates including age, sex, hypertension, diabetes, smoking status, alcohol, physical activity, educational level, household income, and noise exposure. Stratified analyses were performed to examine the effect of the covariates on the association between lipid levels and HL. Results: The high-density lipoprotein cholesterol (HDL-C) level was inversely associated with high-frequency (HF)-HL, with an odds ratio (95% confidence interval) of 0.78 (0.64–0.96) for 1-mmol/L increase in the HDL-C level. Neither the triglyceride nor the low-density lipoprotein cholesterol level was associated with HF-HL. For low-frequency HL, association with any of the serum lipid components was absent. A stratified analysis showed that the inverse association between HDL-C levels and HF-HL was evident (P trend <0.05) in some subjects with specific characteristics such as older age (≥65 years), female sex, non-hypertensive state, and non-regular physical activity. However, a significant interaction between HDL-C levels and all of the stratified variables was absent (P for interaction >0.05). Conclusion The HDL-C level has a linear inverse association with the risk of HF-HL. Given the known protective role of HDL-C against atherosclerotic changes, this finding seems to support the concept of impaired microcirculation in the inner ear as a mechanism for HF-HL.

MRI has the advantages of having excellent soft-tissue contrast and providing functional information without any harmful ionizing radiation. Although previous technical limitations restricted the use of chest MRI, recent technological advances and expansion of insurance coverage are increasing the demand for chest MRI. Recognizing the need for guidelines on appropriate use of chest MRI in Korean clinical settings, the Korean Society of Radiology has composed a development committee, working committee, and advisory committee to develop Korean chest MRI justification guidelines. Five key questions were selected and recommendations have been made with the evidence-based clinical imaging guideline adaptation methodology.Recommendations are as follows. Chest MRI can be considered in the following circumstances:for patients with incidentally found anterior mediastinal masses to exclude non-neoplastic conditions, for pneumoconiosis patients with lung masses to differentiate progressive massive fibrosis from lung cancer, and when invasion of the chest wall, vertebrae, diaphragm, or major vessels by malignant pleural mesothelioma or non-small cell lung cancer is suspected. Chest MRI without contrast enhancement or with minimal dose low-risk contrast media can be considered for pregnant women with suspected pulmonary embolism. Lastly, chest MRI is recommended for patients with pancoast tumors planned for radical surgery.

Background: We aimed to evaluate the association between metabolic syndrome (MetS) and hearing loss (HL) in light of noise exposure in Korean middle-aged adults. Methods: Subjects were 10,356 adults (4,509 males, 5,847 females) aged 40–80 years, who completed audiometric tests and laboratory examinations as part of the Korea National Health and Nutrition Examination Survey between 2010 and 2012. MetS was defined according to the National Cholesterol Education Program-Third Adult Treatment Panel (NCEP III) and International Diabetes Federation (IDF). Low-frequency HL was defined as pure tone averages >25 decibels (dB) at low frequencies (0.5, 1, and 2 kilohertz [kHz]). High-frequency HL was defined as pure tone averages >25 dB at high frequencies (3, 4, and 6 kHz). Odd ratios (OR) and 95% confidence intervals (CI) of MetS associated with each HL type were estimated using multiple logistic regression analysis after adjusting for covariates and taking into consideration sampling weight. Results: 38.1% and 28.6% met the MetS by NCEP III and IDF criteria, respectively. Prevalence of HL was 29.3% and 63.9% for low- and high-frequency HL, respectively. MetS defined by NCEP III was associated with higher risk of high-frequency HL (OR, 1.35; 95% CI, 1.05–1.73), while MetS by IDF criteria was not. The interaction by the noise exposure on the MetS and high-frequency HL was not significant (P-interaction=0.100). There was no association between MetS and low-frequency HL, regardless of applied diagnostic criteria for MetS. Conclusion Our findings suggest MetS is associated with high-frequency HL in people with exposure to noise.