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.

Background: Studies on whether donor-to-recipient sex match status affects long-term survival after liver transplantation (LT) have yielded contradictory results. This study evaluated whether donor-to-recipient sex match status influenced long-term survival after living donor liver transplantation (LDLT) or deceased donor liver transplantation (DDLT) at a high-volume center. Methods: The study included 6,664 patients who underwent primary LT between January 2000 and December 2022 at our institution. Patients were divided into four groups according to donor-to-recipient sex match status: male-to-male (n=3,427 [51.4%]), male-to-female (n=1,152 [17.3%]), female-to-male (n=1,385 [20.8%]), and female-to-female (n=700 [10.5%]). Results: Regarding clinical characteristics, the four groups differed significantly regarding background liver disease (P<0.001), model for end-stage liver disease score (P<0.001), serum protein induced by vitamin K absence or antagonist II level (P=0.003), presence of concurrent hepatocellular carcinoma (HCC; P<0.001), and type of LT (P=0.003). Overall survival (OS) of all LT recipients did not differ significantly among the groups (P=0.377). Donor-to-recipient sex match status did not affect long-term OS in either LDLT (P=0.176) or DDLT (P=0.220) groups. In addition, sex match status did not significantly influence posttransplant OS among patients who underwent LDLT without HCC (P=0.464), LDLT with HCC (P=0.236), DDLT without HCC (P=0.338), or DDLT with HCC (P=0.818). Conclusions Donor-to-recipient sex match status does not significantly affect posttransplant patient survival or HCC prognosis after LDLT or DDLT.

Background and Objectives: Clinical characteristics and outcomes in acute heart failure (AHF) vary by phenotype. We assessed phenotype-specific features, treatment patterns, and outcomes in a nationwide Korean cohort. Methods: The Korean Heart Failure III registry prospectively enrolled 7,351 AHF admissions at 47 hospitals. Among 6,777 patients with available left ventricular ejection fraction (EF), phenotypes were defined as heart failure with reduced EF (HFrEF, ≤40%), mildly reduced EF (HFmrEF,41–49%), or preserved EF (HFpEF, ≥50%). The primary endpoint was a 12-month composite of all-cause death or heart transplantation, evaluated from index admission and, among hospital survivors, from discharge. We used inverse probability weighting (multinomial generalized boosted models with stabilized, trimmed weights) and weighted Cox proportional-hazards models to estimate hazard ratios (HRs). Results: Phenotype distribution was 58.9% HFrEF, 13.6% HFmrEF, and 27.5% HFpEF. Crude 12-month composite rates from index admission were 13.4% (HFrEF), 12.7% (HFmrEF), and 16.8% (HFpEF). After weighting, from index admission, HFmrEF (HR, 0.892; 95% confidence interval [CI], 0.731–1.088) and HFpEF (HR, 1.101; 95% CI, 0.939–1.291) did not differ from HFrEF; from discharge, HFpEF had modestly higher risk (HR, 1.207; 95% CI, 1.008–1.445) whereas HFmrEF did not (HR, 1.039; 95% CI, 0.844–1.279). Hyponatremia and chronic kidney disease were consistent adverse markers, while angiotensin-converting enzyme inhibitor/ angiotensin II receptor blocker use at discharge was protective. Conclusions Across the EF spectrum, phenotypes showed distinct profiles and risk. Postdischarge risk was modestly higher in HFpEF, supporting phenotype-tailored care and systematic discharge optimization in Korean patients with AHF.

In patients with differentiated thyroid cancer (DTC), initial recurrence risk stratification based on clinical, histopathological, and perioperative data remains the key determinant for guiding management strategies during the first 1-2 years post-treatment. However, the adoption of ongoing risk stratification (ORS), which dynamically reassesses risk by integrating longitudinal clinical data and treatment response, enables more precise long-term prognostic assessment and facilitates highly individualized management. Building upon recent guidelines, the 2026 KTA guideline has been further refined by incorporating robust evidence from large-scale national cohorts and comprehensive systematic reviews. These updated recommendations outline contemporary concepts of ORS, risk-adapted TSH suppression targets, optimized surveillance modalities for recurrence detection, and disease-specific long-term follow-up strategies. Reflecting the paradigm shift toward de-escalated treatment, this revision integrates evolved perspectives on TSH suppression intensity, the clinical interpretation of thyroglobulin levels, and tailored follow-up intervals. These evidence-based recommendations aim to minimize unnecessary treatment and excessive surveillance in the large proportion of patients with excellent prognosis after initial therapy, while ensuring that each patient receives appropriately tailored and effective long-term management.

Purpose: Based on the KEYNOTE-522 study, neoadjuvant pembrolizumab plus chemotherapy has become the standard treatment for early-stage triple-negative breast cancer (TNBC).This study evaluated the real-world efficacy, safety, and predictors of pathologic complete response (pCR) in Korean patients. Methods: We conducted a retrospective cohort study of 174 patients with early-stage TNBC who received the KEYNOTE-522 regimen (neoadjuvant pembrolizumab plus paclitaxel and carboplatin, followed by doxorubicin and cyclophosphamide) at a tertiary cancer center between August 2022 and July 2024. We assessed the primary endpoints, including pCR rate and event-free survival (EFS). We performed univariable and multivariable logistic regression analyses to identify independent predictors of pCR. Results: The median patient age was 50 years (range, 24–74 years). The clinical stages were II and III in 79.3% and 20.1% of patients, respectively, and 10.9% had clinical N3 disease. The overall pCR rate was 62.1%, and the N3 subgroup had a pCR rate of 47.4%. On multivariable analysis, high baseline Ki-67 expression (≥ median, 75%) was significantly associated with pCR (odds ratio, 2.84; 95% confidence interval, 1.45 to 5.66; p = 0.002). At a median followup of 18.4 months, the 12-month EFS rate was 97.4%, with significantly superior outcomes observed in patients who achieved pCR compared with those who did not achieve pCR (100% vs. 93.1%, p = 0.007). The treatment completion rate was 92.0%, and immune-related adverse events occurred in 13.8% of patients. Conclusion In this real-world analysis of one of the largest Asian cohorts of patients with earlystage TNBC treated with neoadjuvant pembrolizumab, the KEYNOTE-522 regimen demonstrated substantial efficacy and manageable toxicity, consistent with the original trial findings.

Background: Non-thermal atmospheric pressure plasma (NTAP) generates reactive oxygen species, reactive nitrogen species, and ultraviolet radiation, which can inactivate microorganisms.Onychomycosis treatment is challenging, and its prognosis is poor owing to mixed infections and dermatophytosis. Although NTAP has shown in vitro antifungal effects against dermatophytes and yeast, its efficacy against non-dermatophyte molds (NDMs) and in clinical or nail model studies remains poorly understood. Objective: We evaluated the effects of NTAP on fungi, including NDMs, and infected nail plates. Methods: For the in vitro experiments, Trichophyton rubrum, Candida albicans, Aspergillus fumigatus, and Fusarium oxysporum strains were exposed to NTAP. After NTAP exposure (2,4 and 6 minutes), growth curve, cell viability, and biofilm biomass were assessed by absorbance wavelength of 600 nm, XTT assay, and crystal violet staining, respectively. For the ex vivo experiments, infected nail plates were analyzed using a scanning electron microscope. Results: T. rubrum and C. albicans showed greater growth inhibition with increasing NTAP exposure time, whereas A. fumigatus showed enhanced growth after 6 minutes exposure. Many fungal elements within the subungual hyperkeratosis of the ex vivo specimen were all damaged following NTAP exposure. Conclusion NTAP has antifungal effects on dermatophytes, yeast, and NDMs. We suggest that the intensity and time of NTAP application should be adjusted according to each strain and can be more effective when NTAP directly reaches the hyphae on the nail bed or subungual hyperkeratosis.

The gastrointestinal stromal tumor (GIST) is one of the most common mesenchymal tumors of the gastrointestinal tract. Between the 1990s and early 2000s, GIST was identified as a tumor characterized by KIT or PDGFRA mutations, resulting in imatinib being established as an effective targeted therapy. However, with advances in molecular diagnostics, approximately 10%–15% of GISTs have been reported to harbor alternative mutations, such as those in the succinate dehydrogenase subunit genes and BRAF, leading to the development of additional targeted therapies. GISTs exhibit a wide spectrum of clinical behaviors, ranging from indolent to highly aggressive, prompting the development of diverse risk classification systems. However, multiple systems remain in use, leading to inconsistent pathologic reports. Moreover, the mitotic counting method—a key factor in risk stratification—has become a major source of confusion among pathologists owing to the adoption of digital pathology and discrepancies between updated international guidelines and outdated reimbursement requirements. These inconsistencies have hindered pathologic reporting and communication between pathologists and clinicians. This review comprehensively overviews the historical background, molecular subtypes, and risk classification systems of GIST, focusing on evolving issues in mitotic rate evaluation and the application of risk classification systems in clinical practice.

Purpose: We report two individual rare cases of the simultaneous occurrence of retinal and choroidal macrovessels.Case summary: The first case involved a 39-year-old male who presented with a two-week history of metamorphopsia in his right eye.At the initial visit, visual acuity was 1.0 in both eyes. A choroidal macrovessel transversing the macula was observed in the right eye, and a vascular loop in the inferior retinal arcade and a retinal macrovessel crossing the macula were identified in the left eye. Optical coherence tomography (OCT) revealed bilateral pachyvessels and subretinal fluid in the right macula, which persisted after two months. The second case involved a 36-year-old male with a six-month history of decreased vision in his left eye. At the initial visit, visual acuity was 0.1 in the right eye and 1.0 in the left eye. Subretinal fluid and retinal macrovessel were observed in the left macula. Two months later, the subretinal fluid resolved spontaneously. At a seven-year follow-up, OCT demonstrated pachyvessels in both eyes. Conclusions Although retinal and choroidal macrovessels originated from distinct embryologic vascular systems and are unlikely to share a direct developmental pathway, both cases showed bilateral pachyvessels. Dysregulation of vascular signaling factors such as vascular endothelial growth factor and angiopoietin, which are involved in both retinal and choroidal vascular development, may contribute to the formation of these abnormal macrovessel structures.

Objective: Cyclin-dependent kinase 4/6 (CDK4/6) inhibitors combined with endocrine therapy (ET) constitute the standard systemic treatment for estrogen receptor-positive, human epidermal growth factor 2-negative (ER+/HER2-) metastatic breast cancer (MBC). However, treatment responses remain heterogeneous, highlighting the need for reliable prognostic markers. This study aimed to evaluate the prognostic significance of 18F-fluorodeoxyglucose (FDG) PET/CT findings in this setting. Materials and Methods: This retrospective single-center cohort study included patients with ER+/HER2- MBC who underwent18F-FDG PET/CT before initiating CDK4/6 inhibitors plus ET between 2018 and 2023. Maximum standardized uptake value(SUVmax), whole-body metabolic tumor volume (MTV), and total lesion glycolysis (TLG) were measured. Progression-free survival (PFS) and overall survival (OS) were evaluated as the primary and secondary outcomes, respectively, using multivariable Cox models. PET parameters (SUVmax, MTV, and TLG) were analyzed as both continuous and dichotomized variables based on median values, adjusting for relevant clinical covariates. Results: Among the 374 patients, 82 (21.9%) presented with de novo metastatic disease, and 357 (95.5%) received CDK4/6 inhibitors as first-line therapy. In multivariable Cox analysis, all continuous PET parameters were independently associated with PFS (adjusted hazard ratio for SUVmax 1.05 [95% confidence interval 1.02–1.08]; log-transformed MTV 1.16 [1.08–1.25]; and log-transformed TLG 1.14 [1.07–1.23]) and OS (SUVmax 1.08 [1.04–1.11]; log-transformed MTV 1.24 [1.12–1.38]; and log-transformed TLG 1.22 [1.11–1.34]) with all P < 0.001. Results based on dichotomized PET parameters were similar to those obtained with continuous values: PFS (adjusted hazard ratio for SUVmax ≥ 7.6, 1.41 [1.08–1.85]; MTV ≥ 21.2 cm 3 , 1.41 [1.08–1.86]; and TLG ≥ 78.9, 1.51 [1.14–1.99]) with P ≤ 0.013 and OS (1.43 [1.01–2.04]; 1.84 [1.28– 2.66]; and 1.73 [1.20–2.50], respectively) with P ≤ 0.046. Conclusion Pretreatment 18F-FDG PET/CT parameters are independent prognostic markers in patients with ER+/HER2- MBC receiving CDK4/6 inhibitors with ET, supporting their potential utility in risk stratification.