Background: Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods. Methods: A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2. Results: All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%). Conclusions Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.

Background: Primary Merkel cell carcinoma of the salivary gland is currently not listed in the World Health Organization classification. However, cases of Merkel cell type neuroendocrine carcinomas of the salivary gland with perinuclear cytokeratin 20 positivity have been intermittently reported. We here investigated the clinicopathologic features of additional cases. Methods: Data of four cases of Merkel cell type small cell neuroendocrine carcinoma of the salivary gland were retrieved. To confirm the tumors’ primary nature, clinical records and pathologic materials were reviewed. Optimal immunohistochemical staining was performed to support the diagnosis. Results: All tumors were located in the parotid gland. Possibilities of metastasis were excluded in all cases through a meticulous clinicopathological review. Tumor histology was consistent with the diagnosis of small cell neuroendocrine carcinoma. Tumors’ immunohistochemical phenotypes were consistent with Merkel cell carcinoma, including Merkel cell polyomavirus large T antigen positivity in two of the four cases. Conclusions Merkel cell carcinomas can originate in salivary glands and are partly associated with Merkel cell polyomavirus infection as in cutaneous Merkel cell carcinomas.

Objectives: Lonely death is defined as “a person living in a state of social isolation, disconnected from family, relatives, and others, who dies from suicide, illness, or other causes”. This study investigated the characteristics of individuals who die alone in Korea. Methods: We constructed a database of lonely death cases by linking data from the Korea Crime Scene Investigation Unit of the Korea National Police Agency with National Health Insurance Service (NHIS) records. A descriptive analysis was performed to evaluate the demographics, underlying diseases, and healthcare utilization patterns among lonely death cases. Results: Among the 3122 individuals identified as lonely death cases, 2621 (84.0%) were male and 501 (16.0%) were female. The most common age group was 50-59 years (n=930, 29.8%). The NHIS covered 2161 individuals (69.2%), whereas 961 individuals (30.8%) were enrolled in Medical Aid (MA). The highest number of lonely deaths occurred in Seoul areas, with 1468 cases (47.0%). Mood disorders were diagnosed in 1020 individuals (32.7%), and various alcohol-related diseases, including alcoholic liver disease, were also observed. Outpatient visits increased leading up to death but declined in the final 3 months, while hospitalizations decreased and emergency room visits slightly increased. Conclusions Most lonely death cases involved male in their 50s, with a disproportionately high number of MA beneficiaries compared to the general population. Many of these individuals also experienced mental health issues or alcohol-related disorders. Preventing social isolation and strengthening social safety nets are critical to reducing the occurrence of lonely deaths.

Macrophage activation syndrome (MAS) is a rare but potentially life-threatening complication of Kawasaki disease (KD). In Korea, many studies on KD have been reported, but there are only a few studies on MAS complicating KD (MAS-KD). This study was conducted to provide the characteristics of MAS-KD patients in Korea through a literature review. A total of 23 Korean patients with MAS-KD from 10 papers were included in this study. All MAS-KD patients met the hemophagocytic lymphohistiocytosis (HLH)-2004 criteria and/or the 2016 MAS criteria. The incidence of MAS-KD in Korean children was 0.8%~1.1%, which is relatively low compared to North America (1.9%). MAS-KD patients had lower rates of KD-related features and higher rates of incomplete KD, coronary artery abnormalities, and intravenous immunoglobulin resistance than patients with KD without MAS. Notable laboratory abnormalities in MAS-KD include anemia, neutropenia, thrombocytopenia, hypoalbuminemia, increased hepatic transaminase levels, and hyperferritinemia. For treatment of MAS-KD, the HLH-2004 protocol (i.e., 40 weeks of complex chemotherapy) was applied to 15 patients (65%), which is a significantly greater than those treated with this protocol in other countries (35%). Two patients (9%) died during the HLH-2004 protocol. In actual practice, MAS may be underrecognized in patients with KD. Clinical suspicion is paramount for early diagnosis and timely treatment.

Objective: This study aimed to explore the relationship between circulating vascular endothelial growth factor (VEGF) levels and Behçet’s disease (BD), as well as to examine the association between VEGF gene polymorphisms and BD. Methods: We conducted a comprehensive search of the MEDLINE, Embase, and Web of Science databases to identify relevant research articles. A meta-analysis was performed to compare serum or plasma VEGF levels in BD patients with those in control groups. Additionally, we evaluated the potential associations between BD susceptibility and specific VEGF polymorphisms, namely –634 C/G, +936 C/T, and the 18 bp insertion/deletion (I/D) at –2549. Results: The analysis included 15 studies with a total of 1,020 BD patients and 1,031 controls. BD patients exhibited significantly higher circulating VEGF levels compared to controls (standardized mean difference [SMD]=1.726, 95% confidence interval [CI]=1.030~2.421, p<0.001). Elevated VEGF levels were noted among BD patients from European and Arab populations. Subgroup analysis further confirmed the increase in VEGF levels across different data types and sample sizes. Patients with active BD had higher VEGF levels than those with inactive BD (SMD=0.635, 95% CI=0.092~1.177, p=0.022). However, no significant association was found between BD and the VEGF –634 C allele (odds ratio=1.023, 95% CI=0.707~1.481, p=0.904). Similarly, no association was detected between BD and the VEGF +936 C/T or 18 bp I/D at –2549 polymorphisms. Conclusion Our meta-analysis showed a strong association between elevated circulating VEGF levels and BD. However, the VEGF polymorphisms examined in this study do not appear to be associated with susceptibility to BD.

The management of rheumatoid arthritis (RA) follows a treat-to-target approach, as recommended by guidelines from the American College of Rheumatology (ACR) and the European League Against Rheumatism (EULAR). RA treatment recommendations include an emphasis on frequent disease activity assessments to optimize therapy, recognizing the possibility of timely therapies to slow progression and improve long-term results. The evaluation of joint inflammation, pain, physical function, and clinical indicators is required for comprehensive RA therapy. Current therapeutic goals include achieving low disease activity or remission to enhance the quality of life (QoL) for patients. ACR-endorsed RA disease activity measures, such as the Disease Activity Score in 28 Joints with erythrocyte sedimentation rate or C-reactive protein level, Simplified Disease Activity Index (SDAI), Clinical Disease Activity Index (CDAI), Patient Activity Scale-II, and Routine Assessment of Patient Index Data 3, are recommended for their precision and sensitivity in supporting treat-to-target strategies. The ACR and EULAR have implemented Boolean-based and index-based remission criteria (SDAI and CDAI, respectively) to evaluate therapeutic effectiveness. The use of these markers regularly aligns with the ACR guidelines, improving adherence to quality indicators in clinical practice and confirming the provision of high-quality RA therapy. This review examines disease activity, function, and QoL measurements in line with the ACR and EULAR guidelines to aid doctors in treating Korean patients with RA.

Objective: This study aimed to investigate the link between circulating interleukin-18 (IL-18) levels and adult-onset Still’s disease (AOSD). Methods: A thorough search was performed on MEDLINE, Embase, and Web of Science to find relevant articles. A meta-analysis was conducted to compare serum/plasma IL-18 levels in AOSD patients to those in control subjects. Results: The meta-analysis included 13 studies with a total of 562 AOSD patients and 790 controls. The results showed a significant increase in IL-18 levels in the AOSD group compared to the control group (standard mean difference [SMD]=1.899, 95% confidence interval [CI]=1.078~2.720, p<0.001). When stratified by ethnicity, higher IL-18 levels were found in both Asian and European populations with AOSD. Subgroup analysis, regardless of variable adjustments, consistently indicated significantly higher IL-18 levels in the AOSD group. Significant elevations in IL-18 levels were observed in both small (n<50) and large groups (n>50), as well as in original and imputed data groups after data type stratification. Free IL-18 levels were significantly higher in the active group compared to the inactive group (SMD=0.900, 95% CI=0.532~1.268, p<0.001). The meta-analysis showed a positive correlation between IL-18 levels and ferritin (correlation coefficient=0.542, 95% CI=0.431~0.637, p<0.001) and C-reactive protein. Conclusion This meta-analysis demonstrated a significant increase in circulating IL-18 levels and a positive correlation between IL-18 levels and ferritin and C-reactive protein levels in patients with AOSD.

A 56-year-old man presented to the emergency room with a sudden onset of drowsiness that began 2 hours before his arrival. Brain computed tomography revealed massive pneumocephalus. The patient was diagnosed with cerebrospinal fluid leakage accompanied by septal perforation. A planned skull base repair was performed using multilayer reconstruction via a trans-septal approach. Following surgery, the patient’s mental state recovered, and the skull base defect was successfully reconstructed. The patient disclosed that he had undergone faith healing sessions at a religious facility, where a metal rod-like instrument was repeatedly inserted into his nose.