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: 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.

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.

One third of the overall epilepsy population are estimated to be a drug refractory epilepsy (DRE), defined as the patients who failed to control seizure reduction, even tried two or more appropriate antiepileptic drugs (AEDs) trials. Those people need additional AEDs trials or other treatment options (resective surgery, neuromoulation, etc.). Here, we, clinical guideline committee of the Korean Neurological Association (KNA) introduce the recommendations of AEDs treatments including not only old and new AEDs currently available in Korea but also AEDs planned to be launched in the new future for DRE patients with literature review to help efficient decision of the clinician. The authors reviewed literatures and assessed efficacy and tolerability on 12 currently available and four newly introduced/or planned AEDs applied to DRE patients, published from November 2015 to July 2021. Brivaracetam, eslicarbazepine, canabidiol and cenobamate are the four AEDs that are newly introduced or planned to be launched soon. The reviewed articles are publications after November 2015, 2018 American Association of Neurology guideline, new AEDs which were introduced or planned to be launched as of 2021. All AEDs are classified based on the therapeutic rating scheme, generating recommendations. Overall 173 papers have been reviewed and analyzed for recommendation rationales. KNA introduce additional add-on treatment or conversional monotherapy guidelines on the drug refractory focal and generalized epilepsy. We hope these guidelines or recommendations to help clinical decision for the treatment of drug refractory epilepsy patients