Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Background/Aims: Spinal cord injury (SCI) frequently impairs defecation, severely affecting the quality of life. This study examines compensatory neural remodeling after SCI, focusing on basal colonic contractility, neural responses to electrical field stimulation, and alterations in excitatory cholinergic and inhibitory nitrergic pathways. Methods: Female Sprague–Dawley rats underwent either sham surgery or T10 spinal cord transection and were categorized into 3 groups: sham, 1-week post-SCI (acute), and 4-week post-SCI (chronic). Colonic contractility was assessed in an organ bath using electrical field stimulation in the presence of a nitric oxide synthase inhibitor. Neural protein expression was analyzed by immunofluorescence and Western blotting. Results: SCI produced region- and time-dependent impairments in colonic contractility, with distinct alterations in the proximal circular and longitudinal muscles across acute and chronic phases. Neural excitability shifted dynamically, showing enhanced excitatory activity in the proximal longitudinal muscle at 1-week and the distal circular muscle at 4-week post-SCI. Protein analysis revealed increased neuronal nitric oxide synthase in the proximal colon, decreasedsoluble guanylyl cyclase in the distal colon, upregulated muscarinic M3 receptor in the proximal colon, and reduced vaso-active intestinal peptide receptor 1 in both proximal and distal regions. Conclusion SCI induces spatiotemporal remodeling of excitatory and inhibitory neural pathways, contributing to colonic dysmotility and revealing potential targets for therapeutic intervention.

Legal risks and liability issues in medical practice serve as a primary catalyst for the current collapse of essential healthcare services in Korea. Currently, medical disputes in Korea are disproportionately focused on criminal prosecutions and high-damages civil litigation. This punitive approach fosters a culture of concealment, encourages defensive medicine, and accelerates the exodus of medical professionals from essential fields. Ultimately, this cycle deprives the system of opportunities for improvement and poses a significant threat to patient safety. In contrast, many advanced nations have adopted principles of “Just Culture” and “Safe Space,” prioritizing non-punitive reporting and systemic root-cause analysis over individual retribution. To address these issues, this paper proposes four key strategies: First, the establishment of an independent “Patient Safety Investigation Agency” to objectively investigate incidents and identify systemic flaws. Second, a transition from criminal punishment to licensing board-led management, focusing on re-education and counseling to maintain quality of care. Third, the enactment of “Apology Laws” to ensure that expressions of regret or apologies cannot be used as legal evidence of liability, thereby fostering trust and psychological recovery. Finally, the creation of a “Patient Safety Fund” to provide prompt and sufficient public compensation to victims regardless of proven negligence. In conclusion, it is imperative to shift the paradigm by defining medical accidents as “system failures” rather than individual faults. Strengthening the social safety net will encourage medical professionals to return to essential care and build a sustainable healthcare environment centered on patient safety.

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.

The South Korean resident training system is currently at a critical turning point, facing structural crises characterized by excessive labor-intensive environments and deteriorating quality of education. Since the medical standoff in 2024, the limitations of relying on junior doctors’ labor for hospital operations have become increasingly apparent. This review examines the current status and problems of the resident training system, including long working hours exceeding Organisation for Economic Co-operation and Development (OECD) standards, lack of systematic competency-based education, and worsening regional and essential medical imbalances. By analyzing international cases from the United States, United Kingdom, Japan, and Australia, this article proposes four core strategies for reform: (1) establishing a sustainable working and educational environment through the expansion of hospitalist systems and legalizing physician assistant roles; (2) innovating the curriculum and evaluation systems based on entrustable professional activities and milestones; (3) implementing a network-based training model to bridge the gap between metropolitan and regional healthcare; and (4) securing stable financial support and strengthening governance through the establishment of an independent evaluation body (e.g., K-ACGME). Ultimately, reforming the training system is essential not only for the rights and professional growth of residents but also for ensuring patient safety and the long-term sustainability of the national healthcare system.

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.

Recurrent difficulty securing emergency department (ED) acceptance and delayed interfacility transfer, often resulting in multiple sequential transfer attempts (“round-robin” hospital seeking), in the Republic of Korea reflect a patient safety failure across the emergency care continuum, spanning Emergency Medical Services from emergency calls and prehospital care to ED stabilization, definitive treatment, and secondary transfer. We argue that the governance split between the National Fire Agency–led prehospital response and the Ministry of Health and Welfare–led emergency medical system fragments accountability and data, undermining sustainable quality management. We describe a “double bind” in which clinicians face medico-legal risk regardless of acceptance decisions, distorting transfer behavior. We propose an outcome-linked Quality Improvement system—integrated metrics, interoperable data linkage, operational medical control, and routine feedback—to strengthen Continuity of Patient Care. This requires functional integration of the dual command structure; transferring ambulance service functions to the Ministry of Health and Welfare, or an equivalently strong joint-governance model, should be evaluated. Regionally, responsibility-based systems should be implemented through councils that set transfer principles and resource allocation, supported by stable financing and performance review, with the regional emergency medical situation room providing medical control and real-time coordination. For mass-casualty incidents, preparedness should align standardized triage, integrated command and communication, training, and after-action review. Legal reform is a necessary starting point, but trust and sustained patient safety depend more on cultivating a learning-oriented safety culture grounded in patient experience and public deliberation throughout policy design and implementation.

South Korea’s current healthcare system stands at a critical crossroads that will determine whether it can progress in a better direction over the next decade. Behind the relatively stable level of population health that has been maintained until now, it has become clear that the deterioration of patient experiences, the risk of collapse in critical emergency medical services, the burnout of healthcare providers, and the crisis in the sustainability of healthcare finances have all accumulated simultaneously. This crisis can no longer be overcome by partial fixes or short-term measures alone. The answer to what needs to change first must begin with a reaffirmation of what the healthcare system should aim for. Ultimately, what needs to be changed now is not an individual policy, but the criteria and priorities through which we view healthcare. The focus must shift from what to provide more of, to questioning what holds greater social value. If such a shift does not begin now, in ten years we won’t face a better healthcare system, but care enmeshed in a deeper crisis. Now is precisely the time to fundamentally define the direction of the healthcare system.

Chrysoeriol, a flavonoid naturally found in several plants, including Danggui Susan, a traditional herbal medicine, exhibits promising anti-inflammatory and antioxidant properties. Its potential to prevent cardiovascular diseases, primarily through inhibiting platelet activation and aggregation, has attracted significant interest. This study aimed to investigate the molecular mechanisms underlying the antiplatelet effects of chrysoeriol. The compound effectively suppressed collagen-induced platelet aggregation without inducing cytotoxicity. Chrysoeriol elevated intracellular levels of cyclic AMP (cAMP) and cyclic GMP (cGMP), enhanced inositol 1,4,5-trisphosphate receptor (IP 3R) phosphorylation, and reduced cytosolic calcium (Ca2+ ) mobilization, all of which contributed to its antiplatelet action. Furthermore, chrysoeriol inhibited the phosphorylation of PI3K, Akt, JNK, and p38 MAPK, pathways involved in the activation of cytosolic phospholipase A2 (cPLA 2) and thromboxane A2 (TXA2) production. These effects were accompanied by reduced TXA2 production and secretion of dense granules (ATP and serotonin). Chrysoeriol also impaired thrombin-induced clot retraction, further suggesting its capacity to regulate platelet responses and cytoskeletal rearrangements. These findings highlight chrysoeriol’s multi-target mechanisms, including modulation of cyclic nucleotides, kinase pathways, and platelet function, offering potential as a therapeutic agent to prevent thrombotic cardiovascular events.

Purpose: Hereditary spastic paraplegia (HSP) refers to a group of genetic neurodegenerative diseases marked by gradually worsening spasticity and hyperreflexia in the lower extremities. This study aimed to describe the clinical and genetic characteristics of Korean patients with spastic paraplegia. Materials and Methods: We retrospectively reviewed medical records of 69 patients with spastic paraplegia from 54 unrelated families between 2002 and 2024. Genetic, clinical, electrophysiological, and radiological features were comprehensively analyzed. Results: Causative genes were identified in 34 (63%) of 54 unrelated families; SPAST, detected in 26 families, was the most prevalent. Seven novel pathogenic variants were identified. Clinically, the median age of symptom onset was 25 years [14.0–37.0]. Out of 69 patients with spastic paraplegia, 51 (74%) presented with the pure form of spastic paraplegia, which included all patients with SPG4. Spastic gait was a universal feature in all patients. Urinary dysfunction was present in 42 (61%) patients. Additional neurologic manifestations included peripheral neuropathy 9 (13%), cognitive impairment 5 (7%), upper limb weakness 4 (6%), dysarthria 4 (6%), dysphagia 3 (4%), ataxia 3 (4%), and scoliosis 1 (3%). Brain MRI findings demonstrated a thin corpus callosum in two patients with SPG11; all patients with SPG4 had normal findings. Spine MRI revealed spinal cord atrophy in 16 (27%) patients, including 6 (21%) patients with SPG4. Conclusion The study comprehensively reviewed genetic and clinical spectra of spastic paraplegia in Korean patients, emphasizing the predominance of SPAST as the causative gene and underscoring the genetic and phenotypic heterogeneity of spastic paraplegia.