Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.

In this paper, we systematically review the literature on papillary thyroid carcinoma (PTC) metastasis to the mandible. This is a rare oc-currence, especially in young, asymptomatic patients. We propose appropriate surgical and adjuvant therapy guidelines based on our findings. A systematic PubMed search (up to July 2023) identified 10 eligible cases of papillary or follicular thyroid carcinoma with metastasis to the mandible. Studies of patients with different histologic types or without confirmed distant metastasis were excluded. A rare case of PTC metastasizing to the mandible in a young male highlights an unusual presentation. Surgical treatment of both primary and metastatic sites, along with aggressive adjuvant therapy after surgery, had a positive impact on survival.

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.

Objective: It has been 1 year since the start of the worldwide coronavirus disease-19 (COVID-19) pandemic. This study analyzed the indirect effects of COVID-19 on treating patients with non-infectious diseases by comparing the incidence of complicated appendicitis before and after the pandemic. Methods: The target group included patients aged at least 16 years diagnosed with acute appendicitis between February 23 and July 31, 2020. Patients diagnosed during the same period in 2019 were selected as the control group. The differences in the incidence of complicated appendicitis before and after COVID-19 were investigated, and the association with various variables was analyzed using the odds ratios and 95% confidence intervals (CIs). Results: The study included 120 subjects in 2019 (pre-COVID group) and 119 cases in 2020 (post-COVID group). The pre-COVID group included 25 cases (20.8%) of complicated appendicitis, while the post-COVID group included 48 cases (40.3%). The median time from symptom onset to visit (pre-hospital time) increased from 15 to 22 hours, and the median time from the visit to surgery (in-hospital time) increased from 7 to 11 hours. Multivariate regression analysis of the three variables revealed odds ratios (95% CIs) of pre-hospital time, erythrocyte sedimentation rate, and inclusion in the post-COVID group of 1.02 (1.01-1.02), 2.07 (1.11-3.86), and 2.15 (1.12-4.11), respectively. Conclusion The incidence of complicated appendicitis increased after the COVID-19 pandemic. Therefore, a healthcare system that can minimize the delay in treating non-infectious emergency patients is needed.

Purpose: In 2024, the South Korean government proposed an essential medical care package, including the expansion of medical college admissions, which faced strong opposition from the medical community. Consequently, residents resigned, increasing the workload of the remaining staff and putting public health at risk. This study analyzed changes in the hospitalization patterns of trauma patients during this political conflict period using single-center data from the National Health Insurance Service Ilsan Hospital. Methods: Data from the entire year 2023 and from March to August 2024 were used for analysis, excluding January and February 2024 when the conflict escalated. The selection criteria included patients with trauma who visited the emergency room, and comparisons were made between the periods before and during the medical conflict. Results: In 2023, the total number of patients with trauma were 1,182 (an average of 98.5 per month). From March to August 2024, the number dropped to 204 (34.2 per month), reflecting a significant reduction in the monthly average number of patients with trauma. Despite the overall decline, the number of severe trauma cases remained relatively stable, indicating a shift toward more critical patient care. Emergency department length of stay decreased significantly from 295 min in 2023 to 187 min in 2024. Conclusion The ongoing strain on emergency and support department risks leads to an irreversible collapse if critical points are reached. To address this, localized trauma centers are needed to relieve the burden on larger medical institutions and improve the efficiency of trauma care systems during crises.

Background: Active surveillance (AS) has emerged as a viable management strategy for low-risk papillary thyroid microcarcinoma (PTMC), following pioneering trials at Kuma Hospital and the Cancer Institute Hospital in Japan. Numerous prospective cohort studies have since validated AS as a management option for low-risk PTMC, leading to its inclusion in thyroid cancer guidelines across various countries. From 2016 to 2020, the Multicenter Prospective Cohort Study of Active Surveillance on Papillary Thyroid Microcarcinoma (MAeSTro) enrolled 1,177 patients, providing comprehensive data on PTMC progression, sonographic predictors of progression, quality of life, surgical outcomes, and cost-effectiveness when comparing AS to immediate surgery. The second phase of MAeSTro (MAeSTro-EXP) expands AS to low-risk papillary thyroid carcinoma (PTC) tumors larger than 1 cm, driven by the hypothesis that overall risk assessment outweighs absolute tumor size in surgical decision-making. Methods: This protocol aims to address whether limiting AS to tumors smaller than 1 cm may result in unnecessary surgeries for low-risk PTCs detected during their rapid initial growth phase. By expanding the AS criteria to include tumors up to 1.5 cm, while simultaneously refining and standardizing the criteria for risk assessment and disease progression, we aim to minimize overtreatment and maintain rigorous monitoring to improve patient outcomes. Conclusion This study will contribute to optimizing AS guidelines and enhance our understanding of the natural course and appropriate management of low-risk PTCs. Additionally, MAeSTro-EXP involves a multinational collaboration between South Korea and Australia. This cross-country study aims to identify cultural and racial differences in the management of low-risk PTC, thereby enriching the global understanding of AS practices and their applicability across diverse populations.

Purpose: This study evaluates the prognostic significance of tumor size at disease progression (PD) and depth of response (DOR) in cancer patients. Materials and Methods: We performed post hoc analysis using data from six prospective clinical trials conducted by the Korean Cancer Study Group. Patients with tumor size at PD was categorized into ‘Mild PD’ and ‘Significant PD’ based on the cutoff values of relative change from baseline using maximally selected rank statistics. The overall survival (OS) and progression-free survival (PFS) were compared between PD and DOR categories. Results: Among the 194 evaluable patients, 130 experienced PD. A 35.48% decrease from baseline in tumor size at PD was chosen for the cutoff between mild and significant PD for OS (mild PD: tumor size from the baseline ≤ −35.48%; significant PD > −35.48%). The mild PD had superior OS compared to the significant PD (25.8 vs. 12.8 months; Hazard ratio [HR] 0.47, 95% CI 0.266-0.843, p=0.009). When using an exploratory cutoff based on whether the tumor size was below vs. exceeded from the baseline (mild PD: tumor size from the baseline ≤ 0%; significant PD > 0%), OS remained significantly longer in the mild PD (17.1 vs. 11.8 months; HR 0.60, 95% CI 0.392-0.932, p=0.021). The greatest DOR was associated with the longest OS and PFS (p<0.001 for both). Conclusion Tumor size at PD and DOR were significant prognostic factors for progressive disease. Maintaining a sufficiently reduced tumor size even during PD was associated with better survival outcomes.

Background: Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population. Methods: In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants. Results: We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (36, 21.8%), missense (35, 21.2%), and splice variants (28, 17.0%). The carrier frequency of the AR-NMDs was 27.1%. DYSF exhibited the highest carrier frequency (1.63%), followed by GAA (1.55%), HEXB (1.53%), PREPL (0.76%), NEB (0.66%), ADSS1 (0.65%), ALPK3 (0.65%), and CHRNG (0.65%). The predicted genetic prevalence of AR-NMDs in the Korean population was 38.0 cases per 100,000 individuals. DYSF (6.7 cases per 100,000 individuals) showed the highest genetic prevalence. The variant with the highest allele frequency was c.1250C>T in HEXB at 0.00764, followed by c.[752T>C; c.761C>T] in GAA at 0.00505, and c.2055+2T>G in DYSF at 0.00437. Conclusion Our study suggests that 27.1% of the Korean population are healthy carriers of at least one AR-NMD causing PLPV, revealing the genetic prevalence of NMDs in the Korean population.

In this paper, we systematically review the literature on papillary thyroid carcinoma (PTC) metastasis to the mandible. This is a rare oc-currence, especially in young, asymptomatic patients. We propose appropriate surgical and adjuvant therapy guidelines based on our findings. A systematic PubMed search (up to July 2023) identified 10 eligible cases of papillary or follicular thyroid carcinoma with metastasis to the mandible. Studies of patients with different histologic types or without confirmed distant metastasis were excluded. A rare case of PTC metastasizing to the mandible in a young male highlights an unusual presentation. Surgical treatment of both primary and metastatic sites, along with aggressive adjuvant therapy after surgery, had a positive impact on survival.

Objective: This study aimed to identify the factors contributing to post-traumatic growth (PTG) among nurses who experienced patient death during the coronavirus disease-2019 (COVID-19) pandemic and to evaluate the necessity of grief support is required. Methods: An online survey was conducted to assess the experiences of nurses at Ulsan University Hospital who lost patients during the past year of the pandemic. In total, 211 nurses were recruited. We obtained information on the participants’ demographic and clinical characteristics. For symptoms rating, we used the following scales: the Post-traumatic Growth Inventory (PTGI), Stress and Anxiety to Viral Epidemic-9 (SAVE-9), Patient Health Questionnaire (PHQ-9), Pandemic Grief Scale (PGS), and Utrecht Grief Rumination Scale (UGRS), and Grief Support in Healthcare Scale (GSHCS). Pearson’s correlation coefficients, linear regression, and mediation analysis were employed. Results: PTGI scores were significantly correlated with the SAVE-9 (r=0.31, p<0.01), PHQ-9 (r=0.31, p<0.01), PGS (r=0.28, p<0.01), UGRS (r=0.45, p<0.01), and GSHCS scores (r=0.46, p<0.01). The linear regression analysis revealed the factors significantly associated with PTGI scores: SAVE-9 (β=0.16, p=0.014), UGRS (β=0.29, p<0.001), and GSHCS (β=0.34, p<0.001). The mediation analysis revealed that nurses’ stress and anxiety about COVID-19 and grief rumination had a direct impact on PTG, with grief support serving as a significant mediator. Conclusion PTG was promoted by increases in the medical staff’s anxiety and stress related to COVID-19, grief rumination, and grief support. For the medical staff’s experience of bereavement to result in meaningful personal and professional growth, family members, colleagues, and other associates should provide thoughtful support.