Background: Autosomal dominant giant platelet syndrome (GPS) is characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies in leukocytes.Previous studies suggest relatively preserved platelet structure and function, implicating impaired megakaryocyte fragmentation. This study aimed to identify myosin heavy chain 9 (MYH9) mutations in Korean patients with GPS and to define the associated clinical, molecular and functional characteristics. Methods: After detailed personal and family history taking, peripheral blood smears were reviewed for platelet size, count, and leukocyte inclusions. MYH9 mutations were analyzed in peripheral blood mononuclear cells by direct sequencing of selected exons or complementary DNA (cDNA). Computer-assisted structural modeling was performed to evaluate the functional consequences of identified mutations. Results: Twenty-two affected individuals from six unrelated families were diagnosed with hereditary macrothrombocytopenia consistent with GPS. The median platelet count was 59,000/L, and the mean platelet volume was markedly increased (17.8 fL). Platelets ranged from approximately half to 1.5 times the size of red blood cells.Döhle-like inclusions were observed in 25-33% of leukocytes in four families. Extrahematologic manifestations included hearing impairment (family with Ile1816Val) and renal involvement, ranging from mild proteinuria to chronic renal failure requiring renal transplantation (family with Lys373Asn). Five families harbored MYH9 mutations—Arg1933Ter, Trp33Cys (novel), Lys373Asn, Ile1816Val, and Arg1165Cys—located in exons 40, 1, 10, 37, and 26, respectively; mutations segregated with affected status.Biochemical analysis revealed decreased MYH9 in soluble fractions with increased insoluble pellets; Trp33Cys and Lys373Asn produced aberrant approximately 140 kDa bands in addition to the normal 224 kDa band. Modeling localized Trp33Cys to the proximal myosin head region implicated in actin interaction. Conclusion Five GPS-associated MYH9 mutations were identified, including a novel Trp33Cys variant. Altered MYH9 solubility and disturbed protein–protein interactions may contribute to disease pathogenesis.

This study aimed to develop a predictive model for the early identification of patients at risk of sepsis, using routinely available clinical information and laboratory test results collected during the initial phase of patient care. Methods: This retrospective analysis included electronic medical records of 22,400 adult patients who presented with suspected infection to a tertiary care university hospital in Korea between January 2013 and May 2024. Patients were classified according to Systemic Inflammatory Response Syndrome (score ≥ 2) or Quick Sequential Organ Failure Assessment (score ≥ 2), in combination with sepsis-related International Classification of Diseases, 10th revision codes. Four different machine learning models were trained and validated using five-fold cross-validation. In addition, Shapley additive explanations analysis was performed to interpret the contribution and clinical relevance of key predictive variables. Results: Among the evaluated models, CatBoost demonstrated the strongest predictive performance. Notably, platelet distribution width, alveolar–arterial oxygen difference, procalcitonin, and the arterial/alveolar oxygen ratio consistently emerged as major predictors. Importantly, several variables that did not reach statistical significance in univariate analysis nevertheless contributed substantially to overall model performance, highlighting the importance of complex, multidimensional interactions among clinical factors. Conclusion: These findings indicate that a model based on simple, routinely collected clinical data can achieve high predictive accuracy and strong generalizability. Such a tool may support early clinical decision-making by multidisciplinary teams, including nurses, across diverse real-world care settings. Further prospective studies are warranted to validate its clinical utility and to assess its potential effects on patient outcomes.

Background: Asthma remission has recently emerged as an aspirational treatment goal, yet its definition remains inconsistent across studies and expert groups. The absence of a standardized framework hampers its application in clinical practice and research, particularly in Korea where biologics use is rapidly increasing. This study aimed to establish a consensus definition of clinical remission in severe asthma among Korean experts. Methods: A two-round modified Delphi survey, followed by a focused third round, was conducted among 28 board-certified pulmonologists from the Korean Academy of Tuberculosis and Respiratory Diseases (KATRD). The questionnaire consisted of six domains and 27 items. Responses were analyzed using agreement rates, interquartile ranges, and content validity ratios to determine consensus levels. Results: Consensus was reached on defining clinical remission as a composite of no exacerbations, no systemic corticosteroid use, sustained symptom control (Asthma Control Test ≥20 on at least three occasions over 12 months), and stabilization and optimization of pulmonary function while on maintenance treatment. Experts agreed that pulmonary function should be assessed based on clinical judgment rather than absolute thresholds. Complete remission was additionally defined as fulfilling all clinical remission criteria with normalization of type 2 inflammation (blood eosinophils <300/μL and fractional exhaled nitric oxide <25 ppb). Conclusion This Delphi consensus provides a regionally relevant and pragmatic framework for defining remission in severe asthma. These statements may help guide clinical practice, inform guideline development, and support future research on remission as a treatment goal.

Background/Aims: Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC. Methods: Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy. Results: With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC. Conclusions Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.

Background and Objectives: Circulating microRNAs (miRNAs) have been proposed as potential biomarkers in atrial fibrillation (AF) and heart failure (HF), but their role in patients with AF and heart failure with preserved ejection fraction (HFpEF) remains uncertain. Methods: We measured serum levels of 4 candidate miRNAs (miR-21, miR-146a, miR-146b, and miR-328) using quantitative polymerase chain reaction in 45 patients with persistent AF and HFpEF and five non-AF arrhythmia controls (Healthy). Expression levels were normalized to miR-16 and expressed as fold change (2−ΔCt ). Baseline (V1) and 3–6 months follow-up (V2) samples were analyzed, and comparisons were performed using non-parametric tests. Results: At baseline, none of the 4 miRNAs differed significantly between AF patients and Healthy controls; miR-21, 1.24 ± 0.55 vs. 1.15 ± 0.32 (P = 0.57); miR-146a, 0.66 ± 0.35 vs. 0.65 ± 0.06 (P = 0.71); miR-146b, 0.12 ± 0.07 vs. 0.11 ± 0.01 (P = 0.90); and miR-328, 0.08 ± 0.05 vs. 0.07 ± 0.03 (P = 0.95), all P > 0.5. Baseline comparisons were analyzed using relative expression values (2−ΔCt , normalized to miR-16), while longitudinal changes between V1 and V2 were assessed using fold change (2−ΔΔCt ). No significant longitudinal changes were observed across treatment groups. Conclusions In patients with persistent AF and HFpEF/HF with mildly reduced ejection fraction, circulating miR-21, miR-146a, miR-146b, and miR-328 showed no significant differences compared with the non-AF arrhythmia control group and did not change after 6 months of renin-angiotensin-aldosterone system-targeted therapy. These pilot data suggest that the short-term utility of biomarkers is limited and warrants validation in larger, randomized cohorts.

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.

Coronary artery bypass grafting (CABG) remains a key revascularization strategy for ischemic heart disease; however, nationwide trends in the Republic of Korea have not been thoroughly investigated. Using data from the Korean National Health Insurance Service, we analyzed adult patients who underwent isolated CABG between 2005 and 2022. We evaluated surgical volume, patient demographics, procedural strategies (off-pump vs. onpump), and outcomes. International comparisons were conducted using national cardiac surgery registry data. A total of 51,923 CABG cases were identified. Annual surgical volume declined until 2013 but gradually increased thereafter, reaching 3,717 cases in 2022. Despite this recovery, Korea’s per capita CABG rate remains among the lowest worldwide.In contrast, more than 60% of procedures were performed off-pump—the highest rate worldwide. Over time, the average patient age and prevalence of diabetes increased, whereas in-hospital mortality showed a modest decline. Compared with other countries, the Republic of Korea demonstrated a uniquely low procedural volume and a strong preference for off-pump CABG. This nationwide analysis highlights Korea’s distinctive CABG practice patterns and provides valuable insights for optimizing future clinical and policy decisions in cardiac surgical care.

Background: The incidence of preterm birth in Korea increased from 6.5% in 2013 to 9.7% in 2020. Very low birth weight (VLBW) infants, defined as those weighing < 1,500 g, are particularly vulnerable to numerous health risks. Breast milk provision reduces the incidence of complications in this vulnerable population. The objective of this study was to examine the rate and factors associated with breast milk provision at neonatal intensive care unit (NICU) discharge and to investigate its potential effects on growth and developmental outcomes at 18–24 months corrected age (CA). Methods: We conducted this cohort study using data from over 70 NICUs participating in the Korean Neonatal Network. VLBW infants born between January 2019 and December 2020 at a gestational age of 23 +0 to 31 +6 weeks were included. Discharge feeding types were analyzed of 2,490 infants, while follow-up assessments of growth and neurodevelopmental outcomes at 18–24 months of CA were available for 1,426 infants. Propensity score matching was used for comparative analysis. Results: The rate of breast milk provision at discharge among VLBW infants was 55.9% in 2019 and 56.5% in 2020. Factors that were positively associated with breast milk feeding included higher maternal education level and antenatal steroid use. In contrast, maternal hypertensive disorders, cesarean section, and severe neonatal morbidities (e.g., necrotizing enterocolitis) were correlated with lower breast milk feeding rates at the time of discharge.The provision of breast milk at discharge was not associated with a higher risk of suboptimal growth (below two standard deviations) compared to control infants at 18–24 months of CA. Neurodevelopmental assessments indicated that breast milk was associated with a reduced risk of developmental delay (adjusted odds ratio, 0.72; 95% confidence interval, 0.56–0.94) at follow-up. Conclusion Breast milk provision to VLBW infants at NICU discharge in Korea was comparable to that in other countries. This nationwide study highlights the critical role of breast milk in promoting the neurodevelopment of VLBW infants. Future efforts should focus on identifying the barriers to breast milk provision to improve health outcomes in vulnerable populations.

Purpose: This study was performed to compare clinical features and emergency department (ED) outcomes between children and adults with non‑typhoidal Salmonella (NTS) gastroenteritis in a single‑center cohort. Methods: We retrospectively reviewed electronic medical records of ED patients with stool multiplex polymerase chain reaction-confirmed NTS at CHA Bundang Medical Center from January 2016 through December 2021. Demographics, presentation, laboratory and imaging findings, microbiology, and treatments were abstracted. Primary outcomes were the high acuity (a Korean Triage and Acuity Scale level 1-2), ED length of stay, and disposition. Results: Of 189 patients, 134 were children and 55 adults. The children had fewer comorbidities (5.2% vs. 56.4%; P < 0.001) and high acuity (children, 0% vs. adults, 14.5%), shorter median ED length of stay (237.0 minutes [interquartile range, 188.0-336.0] vs. 360.0 minutes [335.0-569.0]; difference, 123.0 minutes [95% confidence interval, 85.0-328.0]; P < 0.001), and less frequent hospitalizations to the intensive care unit (children, 0% vs. adults, 14.5%; P < 0.001). Fever (94.8% vs. 63.6%) and hematochezia (37.3% vs. 0%) were more common in the children (Ps < 0.001), while adults had higher frequencies of abdominal pain (87.3% vs. 71.6%; P = 0.020) and enteritis/ileus on radiography (63.3% vs. 45.3%; P = 0.033), and higher median values of segmented white blood cells (79.0% vs. 69.4%; P = 0.010) and C‑reactive protein concentration (7.2 vs. 6.3mg/dL; P < 0.001). Ceftriaxone was more commonly used in the children (children, 72.7% vs. adults, 51.9%; P < 0.001). Conclusion Compared with the adults, the children with NTS gastroenteritis presented with lower clinical acuity, shorter ED stays, and no hospitalizations to the intensive care unit, despite more common fever and hematochezia. These findings may support a conservative ED approach in children with careful, indication‑based antibiotic use and highlight opportunities for antimicrobial stewardship.

Objectives: Ischemic stroke is influenced by long-term metabolic and renal deterioration; however, many risk prediction frameworks rely on single time-point measurements. We examined whether multi-period patterns in national health screening indicators are associated with incident ischemic stroke in Korea. Methods: Using customized National Health Insurance Service data with 3 biennial screenings (P1: 2013–2014; P2: 2015–2016; P3: 2017–2018), we identified incident ischemic stroke during 2019–2023 (Korean Standard Classification of Diseases-7 I63). After applying eligibility criteria and excluding individuals with missing screening values, we performed 1:1 propensity score matching on sex, 1-year age strata, and insurance type (97 454 matched pairs; n=194 908). Multi-period indicators included waist circumference increase ≥10%, sustained blood pressure ≥130/80 mmHg, sustained fasting glucose ≥126 mg/dL, proteinuria progression, and creatinine elevation in ≥2 periods (sex-specific thresholds). Associations were evaluated using conditional logistic regression; a comparator model used P3-only indicators. Results: In the multi-period model, stroke was associated with waist circumference increase ≥10% (odds ratio [OR], 1.05; 95% confidence interval [CI], 1.01 to 1.08), sustained blood pressure ≥130/80 mmHg (OR, 1.34; 95% CI, 1.31 to 1.37), sustained fasting glucose ≥126 mg/dL (OR, 1.66; 95% CI, 1.60 to 1.73), creatinine elevation in ≥2 periods (OR, 1.08; 95% CI, 1.06 to 1.10), and proteinuria progression (OR, 1.36; 95% CI, 1.32 to 1.39). In the P3-only model, all single-time-point indicators were associated with incident stroke (ORs, 1.08 to 1.47). Conclusions Multi-year patterns in metabolic screening indicators were associated with incident ischemic stroke. Repeated health screening measurements may complement single time-point assessments and support continuous risk-factor monitoring and patient-centered prevention.