Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.

Background: Current guidelines recommend factor IIa- or Xa-specific inhibitors over warfarin analogs for preventing thromboembolic stroke in patients with atrial fibrillation (AF).However, their plasma concentrations in Korean patients are not well understood. Methods: We conducted a single-center laboratory study to determine the distribution ranges of peak and trough concentrations of three factor Xa inhibitors (apixaban, edoxaban, and rivaroxaban) prescribed for preventing strokes in patients with AF. Patients receiving one of these drugs and undergoing blood specimen collection for laboratory tests were screened. Blood specimens were obtained from patients who had adhered to the prescribed drug regimen consistently for at least 1 week. Drug plasma concentrations were measured using heparin liquid-reagent technology-based anti-Xa chromogenic assays. Results: We selected 459 patients who were taking standard or on-label-reduced doses of apixaban (N = 252), edoxaban (N = 182), or rivaroxaban (N = 25). The 5th–95th percentile ranges of the peak concentrations were 84–414 ng/mL (apixaban), 72–424 ng/mL (edoxaban), and 97–517 ng/mL (rivaroxaban). The respective 5th–95th percentile ranges of the trough concentrations were 44–237 ng/mL, 23–93 ng/mL, and 13–219 ng/mL. Approximately 19.6% (apixaban), 33.3% (edoxaban), and 64.0% (rivaroxaban) of patients in each group had peak concentrations out of the predicted distribution ranges based on pharmacokinetic data. Approximately 7.3%, 52.8%, and 8.3% of patients had trough concentrations out of the predicted distribution ranges. Conclusions A considerable proportion of Korean patients with AF taking factor Xa inhibitors may require population-specific reference ranges to guide therapeutic monitoring.

Background: Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights. Methods: We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis. Results: A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases. Conclusions The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.

Background: Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia. Methods: We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics. Results: RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions. Conclusions This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.

Purpose: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Materials and Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes.Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5,460 ESD cases from 5,250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.

Objectives: This study investigated how the mediating effect of health literacy (HL) on the association between income and cancer screening participation varies by age among Korean adults aged 40 years and older, with the aim of identifying the optimal timing for HL interventions. Methods: Data from 4171 adults aged ≥40 years in the 2023 Korea National Health and Nutrition Examination Survey were analyzed using moderated mediation analysis implemented with the lavaan.survey package, accounting for the complex sampling design. The Johnson–Neyman technique was used to identify age thresholds at which the mediation effect became statistically significant, and the number needed to benefit (NNB) was calculated to estimate the potential efficiency of interventions targeting this pathway. Results: Each 1-quintile increase in income was associated with a 16.0% higher likelihood of undergoing cancer screening (odds ratio=1.16, p<0.001). The mediating effect of HL increased significantly with age (index of moderated mediation=0.000438, p=0.048). Mediation became statistically significant from age 54.2 years (Johnson–Neyman threshold), with the proportion of the total effect mediated rising from 0.1% among adults aged 40–49 years to 8.1% among those aged ≥70 years. The NNB for this pathway indicated substantial intervention efficiency in older adults (NNB=372 for ages ≥70), whereas the mediation effect was not statistically significant in the 50–59 age group. Conclusions HL significantly mediated the relationship between income and cancer screening participation from the mid-50s onward, with progressively greater contributions at older ages. These findings support age-differentiated strategies, including structural accessibility improvements for adults in their 40s and early 50s and integrated income–HL interventions for individuals aged ≥55 years. Experimental studies are warranted to confirm these associations.

The South Korean healthcare system has achieved rapid quantitative growth; however, it continues to face critical challenges in ensuring the fundamental right to health of its citizens. From the perspective of healthcare consumers and civil society, this article identifies structural problems such as imbalances in medical accessibility, instability in essential and emergency care, and the limited participation of consumers in healthcare policy-making. Although the constitution stipulates the state’s responsibility to protect public health, current healthcare policies often prioritize administrative efficiency and provider-centered interests over patient experiences and health outcomes. In particular, this article argues that these challenges are closely related to the inadequate functioning of an accountable healthcare management framework. Structural failures in essential care, workforce shortages, and regional disparities are insufficiently monitored and addressed at the system level, resulting in responsibilities being blurred or shifted to individual healthcare providers. Consequently, the risks and burdens arising from systemic weaknesses are ultimately borne by citizens. To address these issues, this article emphasizes two major shifts. First, meaningful consumer participation must be institutionalized within healthcare governance to strengthen accountability, transparency, and responsiveness. Second, family medicine and primary care should be reinforced as the cornerstone of a sustainable, community-based healthcare system that ensures continuity of care, prevention, and chronic disease management. Re-establishing the healthcare system based on the right to health is not merely a technical adjustment, but a structural transformation toward a responsible and accountable system in which the state clearly assumes responsibility for monitoring, learning, and corrective action.

While South Korea’s National Health Insurance (NHI) was once disparaged as a rudimentary “discount program,” it has matured into the cornerstone of the nation’s medical safety net owing to sustained governmental initiatives. Nevertheless, the pursuit of expanded benefit coverage, exacerbated by demographic shifts toward low fertility and an aging society, has catalyzed a rapid escalation in aggregate national healthcare spending.Consequently, there is an urgent need for the NHI to implement benefit expansion policies that prioritize cost-efficiency and fiscal prudence. This perspective asserts that coverage enhancement should be strategically focused on high-cost catastrophic illnesses, specifically through the robust fortification of the annual out-of-pocket (OOP) maximum system. Furthermore, the reform of private health insurance is imperative, as its unbridled growth in non-reimbursable services has undermined the efficacy of public coverage efforts. This paper proposes concrete policy frameworks for both the enhancement of the OOP maximum system and the structural reform of private indemnity health insurance.

Acute peritonitis is a life-threatening condition that, if left untreated, can rapidly progress to death owing to intra-abdominal sepsis. Here, we report an autopsy case of a 46-year-old Uzbek man who had experienced abdominal pain for about a month but died without timely medical intervention due to barriers to accessing care associated with his undocumented status. Autopsy revealed more than 1,600 mL of purulent ascites in the peritoneal cavity and localized purulent collection in the omentum. Culture of ascitic fluid collected at autopsy yielded bacterial growth, and subsequent 16S rRNA gene sequencing identified Klebsiella variicola, an emerging pathogen frequently misidentified as K. pneumoniae and associated with higher mortality in bloodstream infections, together with Phytobacter massiliensis (formerly Metakosakonia massiliensis), a recently reclassified taxon rarely reported as a cause of human intra-abdominal infection. This case highlights the forensic value of molecular diagnostics for accurate pathogen identification in postmortem investigations, with social barriers contributing to delayed presentation, which allows the infection to progress to a fatal outcome.

Robotic thyroidectomy has progressed from multiport to single-port (SP) platforms to minimize invasiveness and improve cosmesis. The da Vinci SP system (Intuitive Surgical) combines a flexible 3-dimensional endoscope with 3 wristed instruments in a single 2.5-cm cannula-enabled concealed remote access route and mitigates external arm collisions.This review synthesized PubMed-indexed reports (2020–2025) on SP robotic thyroidectomy using the following approaches:transaxillary variants, SP areolar, retroauricular/facelift (SP-hairline variants), and transoral approach. We focused on technical refinement, learning curves, and clinical outcomes. We highlight technical refinements and clinical outcomes across access routes. Contemporary series indicate that SP thyroidectomy is feasible and safe in well-selected patients, with high cosmetic satisfaction and operative metrics comparable to those of multiport cohorts. Among the SP routes, transaxillary variants have the most mature peer-reviewed reporting and are therefore discussed in greater detail. Early applications of SP-assisted lateral neck dissection have also been described. The limitations of current SP platforms include constrained counter-traction, reduced internal workspace, and incomplete integration of advanced energy devices.Nonetheless, ongoing device innovations and the growing global experience suggest that SP systems will increasingly shape endocrine neck surgeries.