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.

Objective: To evaluate the diagnostic performance of the “probable hepatocellular carcinoma (HCC)” category in the Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) v2022 guidelines. Materials and Methods: This multicenter retrospective study included patients at risk of HCC who underwent gadoxetic acid-enhanced MRI between January 2015 and June 2018; a subgroup of these patients also underwent liver CT. Eligible patients had at least one non-cystic lesion (≥10 mm) with a reference standard. Four radiologists interpreted the images independently and the results were pooled. The performance of “definite HCC” and “probable HCC” together and “probable HCC” alone were compared between v2018 and v2022. Results: A total of 2,237 patients (1,666 men; mean age, 59 ± 11 years) with 2,445 lesions were included. In v2022, 1.5% (143/9,780) of the lesions were additionally categorized as “probable HCC” by four reviewers on MRI; among these, 104 lesions were not HCCs. Focal nodular hyperplasia (FNH) or FNH-like nodules constituted 90.4% (94/104) of the false positives. When “definite HCC” and “probable HCC” were combined, v2022 showed higher sensitivity (83.7% [5,670/6,776] vs. 83.1% [5,631/6,776]) but lower specificity (77.1% [2,316/3,004] vs. 80.6% [2,420/3,004]) than v2018 (P < 0.001). For “probable HCC” alone, v2022 showed a lower positive predictive value (PPV) than v2018 (64.1% [373/582] vs. 76.1% [334/439], P < 0.001). In v2022, lesions with non-rim arterial-phase hyperenhancement (APHE) showed a lower PPV than those without APHE (42.3% [91/215] vs. 76.8% [282/367], P < 0.001). In the CT subgroup (n = 1,590), 1.6% (99/6,360) of the lesions were reassessed as “probable HCC,” and its PPV was 83.8% (83/99) in v2022 whereas no lesions were classified as “probable HCC” under v2018. Conclusion The revised “probable HCC” category in the KLCA-NCC v2022 aligns with updates in the diagnostic flow, demonstrating acceptable performance on MRI and CT. Notably, FNH or FNH-like nodules can be misclassified as “probable HCC” when MRI is used.

Background: One-lung ventilation (OLV) during thoracic surgery frequently requires approximately 100% oxygen, imposing the risk of hyperoxemia. This study aimed to assess whether oxygen reserve index (ORI)-guided fraction of inspired oxygen (FiO2) adjustment can reduce the incidence of hyperoxemia in children undergoing lung resection. Methods: This prospective, randomized controlled trial enrolled children aged < 7 years scheduled for thoracoscopic lung resection. The participants were randomly assigned to either a conventional group (FiO2 adjusted based on arterial blood gas analysis [ABGA]) or an ORI group (FiO2 titrated to maintain an ORI target of 0.15). ABGA was performed 10 and 30 min after the start of OLV (T1 and T2). The primary outcome was the incidence of hyperoxemia 30 min after OLV (T2). Results: Data from 64 children (31 conventional, 33 ORI groups) were analyzed. The incidence rate of hyperoxemia at T2 was similar between the conventional and ORI groups (54.8% vs. 60.6%, P = 0.801). However, partial pressure of arterial oxygen at T1 was significantly lower in the ORI group than in the conventional group (214.6 ± 65.5 mmHg vs. 268.8 ± 92.7 mmHg, P = 0.014). The ORI group demonstrated a lower time-weighted average FiO2 during OLV (0.79 ± 0.12 vs. 0.87 ± 0.09, P = 0.004). The ORI group required more rescue interventions than the conventional group and experienced fewer episodes of hypoxia. Conclusions ORI-guided FiO2 adjustment does not significantly reduce the incidence of hyperoxemia in children undergoing OLV but reduces time-weighted FiO2 and hypoxic events.

Background: The prevalence of diabetes mellitus and early-onset dementia (EOD), defined as dementia diagnosed at an age <65 years, is increasing worldwide, with significant socioeconomic implications. We investigated the association between diabetes, prediabetes, and EOD, focusing on the influence of diabetes duration on EOD risk. Methods: Using the Korean National Health Insurance Service database, we analyzed data from 1,979,509 patients aged 40–60 years who underwent health checkups in 2009. Patients were categorized into five groups: normal, impaired fasting glucose (IFG), newly diagnosed diabetes, diabetes duration <5 years, and diabetes duration ≥5 years. Cox proportional hazard models were used to estimate the adjusted hazard ratios (aHRs) for EOD after adjusting for demographic and clinical covariates. Results: During the observation period (mean 7.75 years), 8,921 patients with EOD were identified. The diabetes group demonstrated a significantly higher incidence of EOD compared to the normal group (aHR, 1.334; 95% confidence interval [CI], 1.226 to 1.451). EOD risk increased with longer diabetes duration, with the highest risk observed in patients with diabetes ≥5 years (aHR, 1.543; 95% CI, 1.368 to 1.741). No significant difference was observed between the IFG and normal groups (aHR, 0.989; 95% CI, 0.938 to 1.043). Additionally, the hypertension group exhibited a significantly higher incidence of EOD compared to the non-hypertension group (aHR, 1.364; 95% CI, 1.291 to 1.442). Conclusion Diabetes is independently associated with increased risk of EOD, and this risk increases with longer diabetes duration. This association remained significant regardless of the presence and duration of hypertension.

Purpose: This study aimed to perform a genome characterization of Streptococcus mitis KHUD 011, a strain isolated from the oral microbiome of a healthy Korean individual, and to compare its genomic features with other S. mitis strains. Materials and Methods: The strain was identified through 16S rRNA gene sequencing, and its genome was sequenced using the PacBio Sequel II platform. De novo assembly and annotation were performed, followed by comparative genomic analysis with three additional strains (S. mitis NCTC 12261, S022-V3-A4, and B6). Pan-genome and phylogenetic analyses were conducted to identify strain-specific genes and assess inter-strain genomic diversity. Results: The genome of S. mitis KHUD 011 consisted of 1,782 protein-coding genes, with a G+C content of 40.24%. Pan-genome analysis identified 1,263 core gene clusters (50.0%), 496 dispensable clusters (19.7%), and 763 strain-specific clusters (30.3%). KHUD 011 displayed 88 strain-specific genes, particularly associated with cell wall/membrane biogenesis, transcriptional regulation, and carbohydrate metabolism. Phylogenetic analysis placed KHUD 011 closely with NCTC 12261, forming a distinct cluster apart from other strains. Conclusion The genome characterization of S. mitis KHUD 011 underscores substantial inter-strain genomic diversity influenced by host interactions, ecological niches, and health status. The identified strain-specific genes, particularly those associated with cell wall/ membrane biogenesis, transcriptional regulation, and carbohydrate metabolism, suggest adaptations to the oral microbiome and its interaction with the host. These findings highlight the ecological versatility of S. mitis and the importance of exploring strains from diverse environments to better understand their role within the host and the broader microbiome.

Background: and Purpose Previous research on patients with acute ischemic stroke (AIS) has shown a 0.5% incidence of major gastrointestinal bleeding (GIB) requiring blood transfusion during hospitalization. The existing literature has insufficiently explored the long-term incidence in this population despite the decremental impact of GIB on stroke outcomes. Methods: We analyzed the data from a cohort of patients with AIS admitted to 14 hospitals as part of a nationwide multicenter prospective stroke registry between 2011 and 2013. These patients were followed up for up to 6 years. The occurrence of major GIB events, defined as GIB necessitating at least two units of blood transfusion, was tracked using the National Health Insurance Service claims data. Results: Among 10,818 patients with AIS (male, 59%; mean age, 68±13 years), 947 (8.8%) experienced 1,224 episodes of major GIB over a median follow-up duration of 3.1 years. Remarkably, 20% of 947 patients experienced multiple episodes of major GIB. The incidence peaked in the first month after AIS, reaching 19.2 per 100 person-years, and gradually decreased to approximately one-sixth of this rate by the 2nd year with subsequent stabilization. Multivariable analysis identified the following predictors of major GIB: anemia, estimated glomerular filtration rate <60 mL/min/1.73 m2 , and a 3-month modified Rankin Scale score of ≥4. Conclusion Patients with AIS are susceptible to major GIB, particularly in the first month after the onset of AIS, with the risk decreasing thereafter. Implementing preventive strategies may be important, especially for patients with anemia and impaired renal function at stroke onset and those with a disabling stroke.

BACKGROUND: Data on drug-coated balloon (DCB) treatment in elderly patients are limited. This study was to evaluate the efficacy of DCB treatment in percutaneous coronary intervention (PCI) among elderly patients. METHODS: A retrospective analysis included 232 patients aged 75 years or older with coronary artery disease who underwent successful PCI using either DCB alone or in combination with drug-eluting stent (DES) based on pre-dilation results (DCB-based PCI). These patients were compared with 1818 elderly patients who underwent second-generation DES implantation (DES-only PCI). The endpoint was major adverse cardiovascular events (MACE) at 2-year follow-up. RESULTS: In the DCB-based PCI, 61.2% of patients received DCB-only treatment. Compared to DES-only PCI, the DCB-based PCI group had fewer stents (0.5 ± 0.7 and 1.7 ± 0.8, P < 0.001), shorter stent lengths (13.3 ± 20.9 mm and 37.4 ± 23.0 mm, P < 0.001), and lower usage of small stents with a diameter of 2.5 mm or less (15.6% and 28.7%, P = 0.010). The DCB-based PCI group exhibited lower rate of MACE (5.5% and 13.1%, P = 0.003), target vessel revascularization (1.1% and 5.6%, P = 0.017) and major bleeding (0.7% and 5.1%, P = 0.009) at 2-year follow-up. The reduced risk in 2-year MACE was consistently observed across various matching procedures, with the most significant reduction noted in target vessel revascularization and major bleeding. CONCLUSION The DCB-based PCI reduced stent burden, particularly in the usage of small diameter stents, and was associated with lower risks of MACE, target vessel revascularization, and major bleeding compared to DES-only PCI in elderly patients.

Background: The effects of sugammadex, which reverses neuromuscular blockade, on emergence-related respiratory events in children remains unclear. This study compared the respiratory outcomes of sugammadex and neostigmine in pediatric tonsillectomy. Methods: Children aged 2 years to 6 years old undergoing tonsillectomy were randomly assigned to sugammadex or neostigmine groups. The primary outcome was the occurrence of respiratory adverse events, including oxygen desaturation < 95%, airway obstruction, laryngospasm, bronchospasm, severe coughing, or postoperative stridor. Secondary outcomes included bradycardia, allergic reactions, and emergence delirium. Results: The study included 172 pediatric patients (n = 86 per group). Neuromuscular blockade reversal was faster in the sugammadex group than in the neostigmine group, achieving a train-of-four ratio of 90% in a median of 1 min vs. 4 min in the neostigmine group (P < 0.001). The time to extubation was comparable between the two groups (median, 8 min; P = 0.679), as was the overall incidence of respiratory adverse events (29.0% vs. 30.2%; relative risk, 0.962; 95% confidence interval [CI], 0.607–1.524; P = 0.858). Emergence delirium occurred in 27.9% of patients overall, but the incidence was higher in the sugammadex group than in the neostigmine group (34.9% vs. 20.9%; relative risk, 1.214; 95% CI, 1.005–1.467; P = 0.044). Conclusions Sugammadex provides significantly faster neuromuscular blockade reversal compared to neostigmine but does not shorten the time to extubation or reduce the incidence of emergence-related respiratory adverse events in children undergoing tonsillectomy. Moreover, its use may be associated with an increased risk of emergence delirium.

Background: Atopic dermatitis (AD) is a common skin disease with a wide range of symptoms. Due to the rapidly changing treatment landscape, regular updates to clinical guidelines are needed. Objective: This study aimed to update the guidelines for the treatment of AD to reflect recent therapeutic advances and evidence-based recommendations. Methods: The Patient characteristics, type of Intervention, Control, and Outcome framework was used to determine 48 questions related to AD management. Evidence was graded, recommendations were determined, and, after 2 voting rounds among the Korean Atopic Dermatitis Association (KADA) council members, consensus was achieved. Results: This guideline provides treatment guidance on advanced systemic treatment modalities for AD. In particular, the guideline offers up-to-date treatment recommendations for biologics and Janus-kinase inhibitors used in the treatment of patients with moderate to severe AD.It also provides guidance on other therapies for AD, along with tailored recommendations for children, adolescents, the elderly, and pregnant or breastfeeding women. Conclusion KADA’s updated AD treatment guidelines incorporate the latest evidence and expert opinion to provide a comprehensive approach to AD treatment. The guidelines will help clinicians optimize patient-specific therapies.

Background: Atopic dermatitis (AD) is a common skin disease with a wide range of symptoms. Due to the rapidly changing treatment landscape, regular updates to clinical guidelines are needed. Objective: This study aimed to update the guidelines for the treatment of AD to reflect recent therapeutic advances and evidence-based practices. Methods: The Patient characteristics, type of Intervention, Control, and Outcome framework was used to determine 48 questions related to AD management. Evidence was graded, recommendations were determined, and, after 2 voting rounds among the Korean Atopic Dermatitis Association (KADA) council members, consensus was achieved. Results: The guidelines provide detailed recommendations on foundational therapies, including the use of moisturizers, cleansing and bathing practices, allergen avoidance, and patient education. Guidance on topical therapies, such as topical corticosteroids and calcineurin inhibitors, is also provided to help manage inflammation and maintain skin barrier function in patients with AD. Additionally, recommendations on conventional systemic therapies, including corticosteroids, cyclosporine, and methotrexate, are provided for managing moderate to severe AD. Conclusion KADA’s updated AD guidelines offer clinicians evidence-based strategies focused on basic therapies, topical therapies, and conventional systemic therapies, equipping them to enhance quality of care and improve patient outcomes in AD management.