Background: Single nucleotide polymorphism-based chromosomal microarray analysis (CMA) can detect regions of homozygosity (ROHs), which may be associated with medical conditions; however, limited ROH data, especially in East Asians, complicates clinical interpretations. We characterized ROH distributions and frequencies in a Korean population using CMA, highlighting clinically relevant findings, including suspected uniparental disomy (UPD), using standardized criteria. Methods: We analyzed ROHs in 1,731 individuals who underwent postnatal CMA at a Ko-rean medical center. ROHs ≥ 3 Mb long were detected using the CytoScan Dx platform and Chromosome Analysis Suite Dx. Suspected UPD and consanguinity were assessed per the American College of Medical Genetics and Genomics technical standards. Results: We identified 3,962 ROHs, with 76.7% of patients carrying at least one. Common “hotspot” regions included 3p21.31p21.1 (20.3%), 11p11.2 (18.2%), 1q21.1q21.3(17.7%), and 1p33p32.3 (12.0%). Almost all ROHs observed in > 1% of patients had a median size of < 5 Mb. ROH frequencies correlated negatively with chromosomal recombina-tion rates and positively with gene densities. Additionally, 1.2% (N = 21) of patients exhib-ited ROH patterns suggestive of UPD or consanguinity (13 suspected UPDs on imprinted chromosomes, 6 on non-imprinted chromosomes, and 2 consanguinities); 8 of 13 patients with suspected UPD were diagnosed as having imprinting disorders, with no pathogenic copy number variations detected. Conclusions Our population-specific ROH data for Koreans improve clinical interpretations by minimizing the risk of overinterpreting benign variants and highlight the value of standardized criteria for reliably detecting UPD and consanguinity and integrating ROH analysis into routine CMA interpretations.

Burning mouth syndrome remains a frequent source of diagnostic delay, repeated consultations, and fragmented care because it has long been treated as a “diagnosis of exclusion.” Recent updates in orofacial pain classification and research diagnostic frameworks support a practical shift: from an exclusionary label toward a structured diagnostic algorithm and staged, phenotype-guided management. This narrative, algorithm-focused clinical review aims to summarize clinically actionable evidence and to propose a “minimum sufficient workup” that prioritizes safety, efficiency, and patient-centered communication.We first outline pragmatic diagnostic criteria and key symptom patterns, then integrate current concepts of mixed mechanisms—peripheral neuropathic features, centralociplastic amplification, and psychosocial modulators—that account for symptom fluctuation and discordance between symptom severity and objective findings. The core of this review is a one-page stepwise algorithm: (1) confirm chronicity and absence of visible mucosal disease, (2) screen for red flags requiring urgent evaluation, (3) address common local contributors (e.g., candidiasis, irritants, contact allergy, xerostomia), (4) perform a targeted systemic/medication/deficiency panel, and (5) phenotype patients to guide staged treatment choices and follow-up. Finally, we provide a practical management framework emphasizing education, trigger control, and individualized combinations of topical, systemic, and behavioral interventions with predefined reassessment intervals. Future priorities include phenotype-stratified randomized trials and implementation outcomes that quantify reductions in diagnostic delay, misdiagnosis, and unnecessary testing.

Purpose: Alectinib has been approved for anaplastic lymphoma kinase (ALK)–positive non–small cell lung cancer (NSCLC) at 300 mg twice daily in Japan, lower than global standard of 600 mg twice daily. This study evaluated the clinical relevance of the reduced dose by comparing outcomes between the two doses. Materials and Methods: This study included patients with advanced ALK-positive NSCLC who received alectinib at Samsung Medical Center, Korea. The progression-free survival (PFS), overall survival, cumulative incidence of central nervous system (CNS) progression, and safety profiles were retrospectively reviewed and compared. Results: Among 306 patients, 32 and 274 received alectinib at either 300 or 600 mg twice daily, respectively. The 300 mg group showed a slight but not significant advantage in PFS (hazard ratio [HR], 0.82; 95% confidence interval [CI], 0.44 to 1.51; p=0.51) and overall survival (HR, 0.51; 95% CI, 0.20 to 1.21; p=0.13). Superior outcome with 300 mg was remarkable in patients with lower body weight (≤ 60 kg), but diminished in patients with higher body weights. Patients with baseline brain metastasis in the 300 mg group exhibited a slight increase in incidence of CNS failure (HR, 1.76; 95% CI, 0.53 to 5.8; p=0.36). Although the safety profiles were mostly mild, adverse events were more frequent in the 600 mg group, 50% of which requiring dose reduction. Conclusion Alectinib at 300 mg twice daily seems an acceptable dose in East Asians with ALK-positive NSCLC. Notably, our data favor 300 mg twice daily in patients with lower body weight and no baseline brain metastasis, considering the more tolerable safety profiles and the potential to reduce medical costs.

Limited data exist regarding the real-world practices and clinical outcomes in patients with ischemic heart failure with reduced left ventricular ejection fractions (LVEFs).Using nationwide registry data from South Korea, we aimed to investigate long-term outcomes and clinical practices, especially implantable cardioverter defibrillators (ICDs) implantation, in patients with reduced LVEFs at least 40 days after acute myocardial infarction (AMI). Of 13,056 patients with AMI between 2011 and 2015, we analyzed 350 (median age, 66 years [interquartile range, 56-75]) who had LVEFs <40% on follow-up transthoracic echocardiogram 40 days after the index event. The primary outcome was cardiac-cause mortality at 3 years. Secondary outcomes comprised major cardiovascular events as well as outcomes defined by the use of ICDs, cardiac resynchronization therapy defibrillators (CRT-Ds), and electrophysiology studies. Among 350 patients, 39 (11.1%) died from cardiac causes during 3 years of follow-up. Eleven (3.1%) were hospitalized for ventricular tachycardia. The rate of ICD or CRT-D implantation up to 3 years was 5.7% (20/350). Cox time-to-event analysis revealed older age, LVEF <30%, diabetes mellitus, and previous MI or revascularization as positively associated with cardiac death, whereas the use of statins and body weight <67 kg were negatively associated. This nationwide Korean registry demonstrated that only 5.7% of patients who had reduced LVEFs after 40 days of AMI underwent ICD implantations over 3 years. Considering the high mortality, concerted efforts are needed to improve clinical outcomes for patients who may have been candidates for ICD implantation.

Background and Objectives: Clinical characteristics and outcomes in acute heart failure (AHF) vary by phenotype. We assessed phenotype-specific features, treatment patterns, and outcomes in a nationwide Korean cohort. Methods: The Korean Heart Failure III registry prospectively enrolled 7,351 AHF admissions at 47 hospitals. Among 6,777 patients with available left ventricular ejection fraction (EF), phenotypes were defined as heart failure with reduced EF (HFrEF, ≤40%), mildly reduced EF (HFmrEF,41–49%), or preserved EF (HFpEF, ≥50%). The primary endpoint was a 12-month composite of all-cause death or heart transplantation, evaluated from index admission and, among hospital survivors, from discharge. We used inverse probability weighting (multinomial generalized boosted models with stabilized, trimmed weights) and weighted Cox proportional-hazards models to estimate hazard ratios (HRs). Results: Phenotype distribution was 58.9% HFrEF, 13.6% HFmrEF, and 27.5% HFpEF. Crude 12-month composite rates from index admission were 13.4% (HFrEF), 12.7% (HFmrEF), and 16.8% (HFpEF). After weighting, from index admission, HFmrEF (HR, 0.892; 95% confidence interval [CI], 0.731–1.088) and HFpEF (HR, 1.101; 95% CI, 0.939–1.291) did not differ from HFrEF; from discharge, HFpEF had modestly higher risk (HR, 1.207; 95% CI, 1.008–1.445) whereas HFmrEF did not (HR, 1.039; 95% CI, 0.844–1.279). Hyponatremia and chronic kidney disease were consistent adverse markers, while angiotensin-converting enzyme inhibitor/ angiotensin II receptor blocker use at discharge was protective. Conclusions Across the EF spectrum, phenotypes showed distinct profiles and risk. Postdischarge risk was modestly higher in HFpEF, supporting phenotype-tailored care and systematic discharge optimization in Korean patients with AHF.

Background and Objectives: Graves’ ophthalmopathy (GO) is an autoimmune inflammatory disorder that can adversely affect quality of life in patients with Graves’ disease (GD). The objective of this study was to characterize the clinical features of patients with GO and to identify risk factors associated with its development and the need for anti-inflammatory treatment. Materials and Methods: In this multicenter, retrospective observational study, 818 patients with GD were identified via electronic medical record review. Clinical characteristics were assessed, and logistic regression analyses were performed to identify risk factors for GO development and the need for anti-inflammatory treatment. Results: Among the 818 patients with GD, 135 (16.5%) developed GO, and 60 (7.3%) of these patients received anti-inflammatory treatment. GO was diagnosed at the time of GD diagnosis in 54.8% of cases, and proptosis and eyelid/orbital swelling were the common presenting features. In multivariable analysis, female sex (odds ratio [OR]: 1.75, confidence interval [CI]: 1.02-3.03), goiter (OR: 1.71, CI: 1.08-2.71), and smoking (ex-smokers: OR, 2.18; 95% CI: 1.02-4.65; current smokers: OR, 3.11; CI, 1.78-5.44) were independently associated with GO development, whereas diabetes (OR: 0.35, CI: 0.14-0.89) was inversely associated. Higher total cholesterol (OR: 1.31, CI: 1.01-1.04) and elevated thyrotropin-binding inhibitory immunoglobulin levels (OR: 1.07, CI: 1.02-1.11) were also significantly associated with the need for anti-inflammatory treatment. Conclusion This study delineated the clinical features of GO and identified risk factors for its development and the need for anti-inflammatory treatment in patients with GD, providing valuable information for the management of GO in Korean patients.

Abrupt vessel closure (AVC) is a complication of percutaneous coronary intervention (PCI) and is defined as the sudden cessation of forward coronary blood flow due to a variety of mechanisms. The incidence of AVC has markedly decreased from approximately 3.0% in the early era to about 0.3% today. Nevertheless, cardiovascular interventionists must remain prepared to manage AVC effectively, given its significant impact on clinical outcomes.AVC can arise from several mechanisms, including dissection, intramural hematoma, intracoronary thrombosis, air embolism, vasospasm, and no-reflow. The clinical impact of AVC varies depending on the extent of myocardium affected, ranging from asymptomatic events or transient ischemic chest pain to cardiogenic shock or cardiac arrest. Both a general approach for stabilizing hemodynamic consequences and an etiology-specific management strategy are essential. Hasty decision-making may worsen the situation, whereas a structured approach—focused on hemodynamic stabilization, logical diagnostic processes, and targeted interventions—can improve outcomes. In this narrative review, we describe the mechanisms underlying each etiology, outline mechanism-specific management strategies, and discuss general approaches to managing patients with AVC through logical diagnostic and treatment processes. We hope this review offers valuable insights into this uncommon but significant complication and enhances readers’ skills in managing AVC more effectively during PCI.

Radiofrequency ablation (RFA) is a minimally invasive treatment modality used as an alternative to surgery in patients with benign thyroid nodules, recurrent thyroid cancers (RTCs), and primary thyroid microcarcinomas. The Korean Society of Thyroid Radiology (KSThR) initially developed recommendations for the optimal use of RFA for thyroid tumors in 2009 and revised them in 2012 and 2017. As new meaningful evidence has accumulated since 2017 and in response to a growing global interest in the use of RFA for treating malignant thyroid lesions, the task force committee members of the KSThR decided to update the guidelines on the use of RFA for the management of RTCs based on a comprehensive analysis of current literature and expert consensus.

Objective: To assess the performance of novel qualitative diagnostic criteria using dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) to identify the pathologic complete response (pCR) of primary tumors in esophageal cancer after neoadjuvant chemoradiation (nCRT). Materials and Methods: Patients who underwent nCRT, subsequent MRI, positron emission tomography/computed tomography (PET/CT), endoscopy, or esophagectomy for esophageal cancer between October 2021 and October 2023 were retrospectively analyzed. The DCE-MRI response of primary tumors was interpreted using five grades by thoracic radiologists as follows: G1 (compatible with CR), G2 (probable CR), G3 (probable partial response [PR]), G4 (compatible with PR), and G5 (stable or progressive disease). The performances of MRI, PET/CT, endoscopy, and their combinations in diagnosing pCR in primary tumors were calculated. Results: A total of 52 patients (male:female, 46:6; age, 61.2 ± 8.0 years) were included. Surgical specimens revealed pCR (ypT0) in 34 patients. G1 as the MRI criterion for pCR of primary tumors yielded a positive predictive value (PPV), specificity of 100% (18/18), and low sensitivity (23.5% [8/34]). Combining G1 and G2 as the MRI criteria increased the sensitivity to 73.5% (25/34), with a specificity of 88.9% (16/18), accuracy of 78.8% (41/52), and PPV of 92.6% (25/27). Adding the DCEMRI results (G1-2) significantly improved accuracy for both PET/CT (from 65.4% [34/52] to 80.8% [42/52], P = 0.03) and endoscopy (from 55.8% [29/52] to 76.9% [40/52], P = 0.005), with increase in sensitivity (from 55.9% [19/34] to 82.4% [28/34] for PET/CT-based evaluation [P = 0.008] and from 47.1% [16/34] to 82.4% [28/34] for endoscopy-based evaluation [P = 0.001]). Conclusion DCE-MRI-based grading shows high diagnostic performance for identifying pCR in primary tumors, particularly in terms of PPV and specificity, and enhances response evaluation when combined with PET/CT and endoscopy.

Purpose: To report a nationwide survey on neuroblastoma conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2020. Methods: The clinical data of pediatric patients diagnosed with and treated for neuroblastoma from 2005 to 2019 in 19 hospitals of KAPS members were collected. Survival and prognostic factor analyses were performed using the log rank test and Cox proportional hazard analysis. A p-value <0.05 was considered significant. Results: A total of 669 patients with neuroblastoma were registered for the study. The results were presented and discussed at the 36th annual meeting of the KAPS, which was held in Seoul on August 21, 2020. Conclusion This study provides information on patient demographics, prognostic outcomes, and comprehensive treatment outcomes for neuroblastoma. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of neuroblastoma.