1.Early Onset, High Comorbidity Burden, and Regional Disparities of CADASIL:A Nationwide Cohort Study in South Korea
Ju-Yeun LEE ; Minwoo LEE ; Jae-Sung LIM ; Mi Sun OH ; Kyung-Ho YU ; Young Eun KIM ; Hyeo-Il MA ; Yun Jin KIM ; Jong Ho PARK ; Young Hee JUNG
Journal of Clinical Neurology 2026;22(2):172-182
Background:
and Purpose To compare the epidemiological and clinical features of the rare patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with age- and sex-matched controls in a nationwide cohort from South Korea.
Methods:
This observational cohort study analyzed newly diagnosed CADASIL patients aged at least 20 years and matched controls using data from the National Health Information Database for 2004–2022. The cumulative incidence of CADASIL was assessed by age and sex, and compared between regions. Neurologic and systemic diseases were compared between the CADASIL and control groups.
Results:
The study analyzed 816 CADASIL patients and 816 age- and sex-matched controls aged 56.8±15.2 years (mean±standard deviation), among whom 48.3% were male. The cumulative incidence of CADASIL was 1.86 per 100,000 people (95% confidence interval [CI]=1.85– 1.87 per 100,000), and peaked at 60–69 years of age. In terms of regional distribution, the incidence was highest for Jeju, at 39.67 per 100,000 (95% CI 37.84–41.49 per 100,000). Neurologic diseases were more frequent in CADASIL patients, including Alzheimer’s disease (33.1% vs.20.0%), vascular dementia (84.9% vs. 5.0%), epilepsy (34.6% vs. 15.9%), stroke (70.7% vs. 27.6%), parkinsonism (18.9% vs. 11.0%), and depression (60.8% vs. 44.9%). Systemic diseases such as diabetes mellitus (78.9% vs. 68.9%) were also more common in CADASIL patients, while cancer (27.9% vs. 38.7%) and myocardial infarction (10.0% vs. 13.6%) were less common than in controls. The onset ages of all diseases were lower in CADASIL patients.
Conclusions
This study has provided a precise nationwide estimate of the CADASIL incidence and its regional distribution in South Korea. CADASIL patients showed higher incidence rates and earlier onsets of diverse clinical manifestations.
2.Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades
Yunjung CHOI ; Soo-Hyun KIM ; Sung Jun AHN ; Eun Kyoung OH ; Jeong Hee CHO ; Ha Young SHIN ; Seung Woo KIM ; Young-Chul CHOI ; Hyung Jun PARK
Yonsei Medical Journal 2026;67(1):34-41
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.
3.Mitochondrial Metabolic Reprogramming of Cortical Neurons by Prenatal Exposure to Corticosterone: A Shift from ATP Synthesis to Membrane Potential Maintenance
Khulan AMARSANAA ; Michidmaa BADARCH ; Hee-Young KIM ; Oh-Bin KWON ; Eun-Bok BAEK ; Eun-A KO ; Sung-Cherl JUNG
Experimental Neurobiology 2026;35(1):1-16
Mitochondrial bioenergetics plays a fundamental role in neuronal development and function. Prenatal exposure to corticosterone in rats (Corti.Pup) has previously been shown to cause delayed neurodevelopment and synaptic plasticity deficits, showing attention deficit hyperactivity disorder (ADHD) - like behaviors. However, the underlying mitochondrial metabolic adaptations remain unclear. This study investigated mitochondrial function and metabolic remodeling in prefrontal cortex neurons of Corti.Pups, focusing on oxidative phosphorylation, calcium handling, and redox balance. We assessed neuronal viability, reactive oxygen species (ROS) production, and oxygen consumption rate (OCR) through experiments conducted in both neuron-glia co-culture and neuron-only conditions. Furthermore, we evaluated electron transport chain (ETC) activity, mitochondrial membrane potential (MMP), and mitochondrial Ca2+ uptake in purified isolated mitochondria. In results, Corti.Pup neurons exhibited increased vulnerability to glutamate-induced excitotoxicity in the absence of glial support. Despite reduced ROS production, these neurons showed elevated mitochondrial OCR and proton leak, coupled with decreased non-mitochondrial OCR and ETC complex activity. Surprisingly, MMP remained elevated despite ETC dysfunction, and mitochondrial Ca2+ uptake was suppressed. These features indicate mitochondrial metabolic reprogramming, prioritizing MMP maintenance over ATP synthesis. The observed mitochondrial inefficiency and compensatory adaptations may impair energy production, contributing to delayed neuronal development in Corti.Pups. These findings suggest that mitochondrial dysfunction and metabolic remodeling play central roles in the pathogenesis of neurodevelopmental disorders such as ADHD.
4.Factors influencing the use of implantable cardioverter-defibrillators for primary prevention in ischemic cardiomyopathy according to implantation volume: a prospective multicenter registry
Tae-Hoon KIM ; Hee Tae YU ; Il-Young OH ; Eue-Keun CHOI ; Jung-Hoon SUNG ; Young Soo LEE ; Jong-Youn KIM ; Yong-Soo BAEK ; Junbeom PARK ; Boyoung JOUNG ;
International Journal of Arrhythmia 2026;27(1):e8-
Background and Objectives:
Primary prevention (PP) implantable cardioverter-defibrillator (ICD) therapy for ischemic cardiomyopathy (ICM) is underused in Asian countries, including South Korea. Both clinical and hospital factors may influence appropriate ICD use. We evaluated whether determinants of PP ICD implantation differ by hospital implantation volume.
Methods:
In this prospective, multicenter observational registry (blinded for review), patients eligible for PP ICD were enrolled. Factors associated with ICD implantation—clinical characteristics and hospital-level systems—were examined across 4 large-volume hospitals (≥ 15 implants during the study) and 12 small-volume hospitals (< 15). Multivariable logistic regression identified independent predictors.
Results:
Among 3,083 ICM patients (2,403 men; median age 70 years), PP ICD implantation rates were 10.8% in large-volume and 5.7% in small-volume hospitals. Across groups, male sex and chronic kidney disease independently predicted ICD implantation. Regarding hospital factors, non-monetary incentives for referral were the sole independent predictor in large-volume centers (odds ratio [OR], 3.55; 95% confidence interval [CI], 2.07–6.10;P < 0.001). In small-volume centers, heart failure conferences (OR, 12.73; 95% CI, 1.72–94.37;P = 0.013), structured education systems (OR, 11.72; 95% CI, 2.45–56.12; P = 0.02), and pacemaker clinics (OR, 11.4; 95% CI, 2.24–58.39; P = 0.003) were independently associated with implantation.
Conclusions
Clinical predictors of PP ICD use were consistent across hospital volumes, but hospital-level determinants differed. Referral incentives characterized large-volume centers, whereas conferences, education systems, and pacemaker clinics were key in smallvolume centers. Tailored institutional strategies by hospital volume may help close the PP ICD underuse gap and improve evidence-based implementation.
5.Remission of diabetes with glutamic acid decarboxylase antibody positivity that developed after the administration of olanzapine: a case report
Kyuho KIM ; Soo Hyun SEO ; Yun Ji HONG ; Woojae MYUNG ; Bomi KIM ; Chang Ho AHN ; Sung Hee CHOI ; Hak Chul JANG ; Tae Jung OH
Precision and Future Medicine 2026;10(1):51-56
Olanzapine is a second-generation antipsychotic drug associated with the development of type 2 diabetes. However, the development and remission of diabetes with glutamic acid decarboxylase (GAD) antibody (Ab) positivity related to olanzapine treatment have not been reported. Here, we present the case of a 33-year-old man taking olanzapine who was diagnosed with diabetes with GAD Ab positivity complicated by diabetic ketoacidosis (DKA). After discontinuation of the drug and tight glycemic control, his diabetes remitted, and the GAD Ab became negative spontaneously after 18 months. The classification of diabetes is challenging because of overlapping autoimmune and metabolic features. Olanzapine may have contributed to pancreatic β-cell apoptosis, which could potentially trigger autoimmunity and the development of type 1 diabetes-like features (DKA as the initial presentation, a low C-peptide level, and GAD Ab positivity). The rapid amelioration of hyperglycemia and weight reduction may be responsible for the remission of diabetes after the discontinuation of olanzapine.
6.Assessing Laser Safety in Dermatology:Eye Protection and Infection Control Practices Among Board-Certified Korean Dermatologists
Sejin OH ; Yeong Ho KIM ; Bo Ri KIM ; Hyun-Min SEO ; Soon-Hyo KWON ; Hoon CHOI ; Hae Woong LEE ; Jung-Im NA ; Chun Pill CHOI ; Joo Yeon KO ; Hwa Jung RYU ; Suk Bae SEO ; Jong Hee LEE ; Chang-Hun HUH ; Hei Sung KIM
Annals of Dermatology 2026;38(1):69-74
Background:
Laser procedures are integral to dermatologic practice, yet safety measures- particularly regarding ocular protection and plume control- are poorly studied in real-world settings.
Objective:
To evaluate current practices in eye protection, infection control, and occupational risk awareness among Korean dermatologists performing laser treatments.
Methods:
A cross-sectional survey was conducted among board-certified dermatologists at the 2024 Korean Society for Dermatologic Laser Surgery meeting. The questionnaire covered demographics, laser frequency, use of goggles and masks, infection control strategies, ophthalmologic monitoring, and history of warts or cancer.
Results:
Seventy-nine respondents completed the survey. All reported using protective goggles, but only 26.6% and 22.8% did so for CO 2 and erbium-doped yttrium aluminium garnet lasers, respectively. Only 24.1% underwent regular eye exams, and 13.9% reported eye conditions after starting laser practice. While 89.9% used masks, 40.8% used dental masks, which are inadequate for plume protection. Suction devices were used by 94.9%, though performance specifications were unclear. Warts were reported by 46.8% of respondents; two reported cancer diagnoses after initiating laser work.
Conclusion
Despite high overall adherence to basic safety practices, critical gaps remain. Our findings highlight the need for standardized guidelines and long-term occupational health monitoring to ensure safe laser practice.
7.Current Clinical Perspectives on Rosacea Management: Insights From a Korean Multicenter Expert Opinion Survey
Bo Ri KIM ; Sejin OH ; Ju Hee HAN ; Jimyung SEO ; Hyun-Min SEO ; Soon-Hyo KWON ; Hoon CHOI ; Jung U SHIN ; Jae We CHO ; Boncheol Leo GOO ; Jung-Im NA ; Dong Hun LEE ; Chun Pill CHOI ; HaeWoong LEE ; Joo Yeon KO ; Hwa Jung RYU ; Nark-Kyoung RHO ; Hyunjo KIM ; Ga-Young LEE ; Jong Hee LEE ; Nala SHIN ; Sang Ju LEE ; Suk Bae SEO ; Geun Soo LEE ; Hei Sung KIM ; Chang-Hun HUH
Annals of Dermatology 2026;38(1):42-50
Background:
Rosacea is a chronic inflammatory skin disorder characterized by erythema, papules, ocular symptoms, and heightened sensitivity. Patients with neurogenic symptoms such as burning or stinging remain particularly difficult to manage. Current guidelines often underrepresent energy-based devices (EBDs), pigmentary sequelae, psychosocial burden, and ocular comorbidities.
Objective:
To examine Korean dermatologists’ expert perspectives on rosacea management, focusing on skin sensitivity, neurogenic symptoms, pigmentary changes, psychosocial impact, ocular involvement, and EBD use.
Methods:
A web-based, 29-item survey was administered to 25 board-certified Korean dermatologists (May–June 2025). Quantitative and qualitative responses were analyzed.
Results:
Erythematotelangiectatic and papulopustular phenotypes with sensitivity skin predominated. EBDs (pulsed dye laser, intense pulsed light) were frequently used but limited by cost and sensitivity issues. Neurogenic symptoms were recognized but rarely treated with neuromodulators. Post-inflammatory hyperpigmentation was infrequent, yet monitoring was inconsistent.Psychosocial and ocular aspects were acknowledged but seldomly systematically addressed.Respondents expressed interest in emerging adjunctive treatments such as cold plasma, skin boosters, and holistic care approaches.
Conclusion
Korean dermatologists adopt individualized strategies for rosacea, yet practice gaps remain regarding neurogenic symptoms, pigmentary complications, and psychosocial and ocular comorbidities. Findings support the need for updated multidisciplinary, phenotype-driven guidelines aligned with real-world practice.
8.Burning Mouth Syndrome 2026: From “Diagnosis of Exclusion” to a Structured Diagnostic Algorithm (Narrative Review)
Chang-Kyu OH ; Hye-Min JU ; Sung-Hee JEONG ; Yong-Woo AHN ; Hye-Mi JEON ; Soo-Min OK
Journal of Oral Medicine and Pain 2026;51(1):20-28
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.
9.Shifting the Paradigm of Medical Dispute Resolution: From Individual Punishment to System Improvement and Public Compensation
Hee Gyung KANG ; Eun Kyung EO ; Duseop KWON ; Sung-ju KIM ; HaDa RYUOK ; Serng Bai PAK ; Junghee AHN ; Minsu OCK ; Mihwa YOO ; Sang-il LEE ; Eunyoung CHO ; Eun Jin HA ; DongSeok HAN ; Juhwan OH
Korean Journal of Family Practice 2026;16(1):25-32
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.
10.Challenges in Strengthening National Health Insurance Coverage and the Necessity of Reforming Private Indemnity Health Insurance
Jong Myoung KIM ; Hee Gyung KANG ; Eun Jin HA ; Sung-ju KIM ; Junghee AHN ; Mihwa YOO ; Juhwan OH
Korean Journal of Family Practice 2026;16(1):42-47
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.

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