Dilated cardiomyopathy is the most common form of cardiomyopathy in children and often leads to irreversible myocardial dysfunction. To improve the prognosis, it is critical to identify rare but reversible causes. We report a 12-year-old girl referred to the emergency department for dyspnea on exertion and generalized edema that lasted for 1 month. She gained 20 kg over the past 3 years, which had gone uninvestigated. Transthoracic echocardiography demonstrated left ventricular dysfunction with pericardial effusion. Thyroid function tests revealed concentrations of free T4 and thyroid-stimulating hormone of 0.12 ng/dL (reference value, 0.93-1.7) and 86.9 µIU/mL (0.3-4.2), respectively, with anti-thyroid peroxidase and anti-thyroglobulin antibodies elevated, confirming the presence of autoimmune hypothyroidism. We initiated heart failure management alongside levothyroxine replacement therapy. After 5 months of treatment, a follow-up echocardiography showed improved left ventricular and thyroid function.

Background/Aims: The optimal vascular access strategy for very elderly patients initiating hemodialysis (HD) remains unclear. Arteriovenous fistulas (AVFs) offer long-term benefits but may be limited due to vascular aging. This study evaluated vascular access outcomes in patients aged ≥ 80 years. Methods: We conducted a retrospective cohort study using data from the Korean National Health Insurance Service between 2008 and 2019. Patients aged ≥ 80 years who initiated HD with a newly created AVF or arteriovenous graft (AVG) were included. Primary outcomes were primary, assisted primary, and secondary patency. The secondary outcome was all-cause mortality. Outcomes were compared using Kaplan–Meier analysis and multivariable Cox regression. Results: Among 8,487 patients, 5,124 (60.4%) received AVFs (AVF group) and 3,363 (39.6%) received AVGs (AVG group). AVFs were associated with significantly lower rates of patency loss across all definitions. The adjusted hazard ratios (HRs) for AVG vs. AVF were 1.76 (95% confidence interval [CI], 1.67–1.86) for primary patency loss, 1.90 (95% CI, 1.77–2.03) for assisted primary, and 3.18 (95% CI, 2.81–3.61) for secondary patency loss. All-cause mortality was also higher in the AVG group (adjusted HR, 1.24; 95% CI, 1.17–1.30). Conclusions In this large-scale study, AVF use was associated with superior patency and lower mortality compared with AVG in patients aged ≥ 80 years. These findings suggest that AVF remains a beneficial option for appropriately selected elderly patients and that age alone should not be a primary barrier to its creation.

Background/Aims: Left ventricular ejection fraction (LVEF) is a key echocardiographic parameter for assessing LV systolic function, guiding the management of many cardiovascular diseases, including heart failure (HF). While traditional electrocardiography (ECG) has been widely used in clinical practice, it has limitations in predicting LVEF. This study investigated the impact of integrating ECG data with metadata, such as age, N-terminal pro B-type natriuretic peptide (NT-proBNP), and sodium levels, to enhance the accuracy of LVEF prediction, especially in HF with reduced ejection fraction (HFrEF, LVEF ≤ 40%). Methods: This retrospective study analyzed ECG and metadata from two tertiary teaching hospitals in Korea. A deep neural network (EfficientNet B3) was trained to predict LVEF, incorporating clinical metadata alongside ECG inputs. Model performance was assessed using the area under the curve (AUC) and the coefficient of determination (R2). Results: The artificial intelligence (AI) model achieved an AUC of 0.95 when ECG data were combined with age, NT-proBNP, and sodium levels, outperforming models relying on ECG alone (AUC = 0.90). The integration of metadata significantly improved the prediction accuracy, particularly for HFrEF cases. The specificity of the model remained high (96.9%), but sensitivity was relatively low (54.8%), indicating its potential as a screening tool for HFrEF. Conclusions The combination of ECG and metadata results using AI enhances the predictive accuracy of HFrEF detection. This approach offers a scalable and noninvasive method for HF screening and risk stratification, particularly in resource-limited settings. Further validation in diverse populations is needed to confirm its clinical utility.

Background/Aims: Patients with atrial fibrillation (AF) and end-stage kidney disease (ESKD) require careful anticoagulation because thrombotic and bleeding risks are both elevated. We evaluated the efficacy and safety of warfarin, direct oral anticoagulants (DOACs), and no anticoagulation in Korean patients with ESKD and AF. Methods: In this multicenter retrospective study, we included 933 patients with ESKD and nonvalvular AF treated between 2010 and 2023. Patients were assigned to three groups by initial treatment: no anticoagulation (n = 604), warfarin (n = 197), or DOACs (n = 132). The primary efficacy outcome was ischemic stroke or systemic embolism (IS/SE); the primary safety outcome was major bleeding (MB). Secondary outcomes were intracranial hemorrhage (ICH), gastrointestinal bleeding (GIB), and all-cause mortality. Inverse probability of treatment weighting was used to adjust for confounding. Results: Both warfarin (adjusted hazard ratio [aHR], 0.55) and DOACs (aHR, 0.36) significantly reduced the risk of IS/SE compared with no anticoagulation. However, warfarin increased MB risk compared with no anticoagulation (aHR, 2.69), including ICH and GIB. DOACs also increased MB risk versus no anticoagulation (aHR, 1.37), driven primarily by ICH. Compared with warfarin, DOACs showed a lower MB risk (aHR, 0.51). Both warfarin and DOACs reduced all-cause mortality relative to no anticoagulation (aHR, 0.53 and 0.57, respectively). Conclusions Among Korean patients with ESKD and AF, both warfarin and DOACs reduced IS/SE but increased MB. Given their lower MB risk than warfarin, DOACs may be preferable for anticoagulation in this high-risk population.

Background/Aims: Gastric antral vascular ectasia (GAVE) is a rare but important cause of gastrointestinal (GI) bleeding. The clinical course of GAVE is not well-known, and recurrent bleeding from GAVE is a therapeutic challenge. Therefore, we investigated the clinical course of GAVE and identified the risk factors for bleeding from it. Methods: We retrospectively reviewed the records of patients diagnosed with GAVE using upper GI endoscopy at Asan Medical Center between January 2004 and December 2019 and evaluated the clinical course and risk factors for bleeding from GAVE. Results: Of the 348 patients (mean age, 62.3 ± 10.7 years; male, 62%), bleeding from GAVE occurred in 123 (35%) patients during follow-up (median, 17.3 months; interquartile range [IQR], 4.2–46.6). GI bleeding from GAVE was significantly associated with Child–Pugh class B or C liver cirrhosis (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.57–4.16), chronic kidney disease (CKD) (OR, 2.77; 95% CI, 1.52–5.07), use of antithrombotic agents (OR, 2.34; 95% CI, 1.13–4.82), and involvement of the duodenal bulb (OR, 3.21; 95% CI, 1.76–5.86). Rebleeding occurred in 39 of 123 patients (32%), in whom CKD (OR, 2.55; 95% CI, 1.12–5.81) was significantly associated with rebleeding. Endoscopic hemostasis was most commonly performed using argon plasma coagulation, and the median number of endoscopic hemostasis performed was 2 (IQR, 1–3). Conclusions A careful follow-up for bleeding is needed in GAVE patients with liver cirrhosis, CKD, use of antithrombotic agents, and duodenal bulb involvement.

Purpose: The chromodomain helicase DNA-binding (CHD) protein family comprises adenosine triphosphate-dependent chromatin remodelers that regulate chromatin structure and gene expression. Pathogenic CHD2 variants are associated with neurodevelopmental phenotypes, but these genotype–phenotype correlations remain unclear. This study aimed to delineate the clinical and genetic features of patients with CHD2-related disorders and to explore the associated genotype–phenotype relationships. Methods: Among 22 patients with pathogenic or likely pathogenic CHD2 variants identified using a customized 172-gene neurodevelopmental and epilepsy panel, 19 with sufficient clinical data were included. Demographic, clinical, neuroimaging, electroencephalographic, and genetic data were retrospectively reviewed. Results: Eighteen pathogenic or likely pathogenic variants were identified, including eight novel variants: nine nonsense (50.0%), five splice-site (27.8%), two missense (11.1%), and two exon deletions (11.1%). All patients had epilepsy, with a median age of seizure onset of 2.33 years. Comorbidities included global developmental delay (89.5%), intellectual disability (82.0%), and neuropsychiatric symptoms (47.4%). Seizure types were heterogeneous, with a predominance of generalized-onset seizures, and 13 patients (68.4%) achieved seizure freedom. Marked phenotypic variability was observed: two unrelated patients with the same truncating variant had different developmental and seizure-related profiles, a symptomatic child with an inherited exon 5 deletion contrasted with her asymptomatic father, and a patient with an exon 17–29 deletion exhibited relatively mild features. Conclusion Epilepsy was a consistent manifestation in this study and was accompanied by diverse developmental and neurobehavioral features, with substantial genotype–phenotype discordance. Further research on genotype–phenotype correlation is warranted.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and the presence of restricted, repetitive behaviors. This mini-review provides an overview of the continuum from ASD screening to early diagnosis and intervention. With the global prevalence of ASD steadily increasing, early identification, particularly during critical periods of neuroplasticity, is essential for optimizing long-term outcomes. Screening tools such as the Modified Checklist for Autism in Toddlers facilitate early detection, while multidisciplinary diagnostic evaluations guided by standardized criteria, including the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, confirm the diagnosis and assess comorbid conditions. Evidence-based early interventions that integrate behavioral, developmental, and educational strategies aim to address core symptoms, enhance adaptive functioning, and foster independence. Approaches such as applied behavior analysis, developmental relationship-based therapies, and naturalistic developmental behavioral interventions have demonstrated strong efficacy, especially when introduced during toddlerhood. Family participation is central to the success of these interventions, as it supports skill generalization and reduces caregiver stress. Despite persistent challenges related to screening accuracy and the heterogeneity of ASD, particularly in females and individuals with subtle presentations, ongoing advances in personalized interventions and diagnostic technologies underscore the importance of early, comprehensive care. This review emphasizes the critical role of timely screening, accurate diagnosis, and individualized intervention in improving the quality of life for children with ASD and their families.

Rectal cancer, which accounts for approximately 40% of colorectal cancers, remains a major clinical concern. Recent advances in diagnostic imaging, surgical techniques, radiotherapy, and systemic treatment have steadily improved rectal cancer outcomes. Considering this, the Korean Rectal Cancer Multidisciplinary (KRCM) Committee has aimed to provide clinicians and policymakers with up-to-date, evidence-based clinical practice guidelines to support optimal decision-making, reflecting current evidence, the Korean healthcare context, and patient values and preferences. The Clinical Practice Guidelines for Rectal Cancer version 2.0 were developed through multidisciplinary collaboration with related academic societies, building upon and updating the KRCM Clinical Practice Guidelines version 1.0 (titled “Multidisciplinary guidelines for the management of rectal cancer”). These consensus guidelines of the KRCM were established based on a comprehensive literature review, evidence synthesis, with recommendation development guided by the GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology, and consideration of applicability in real-world clinical practice under the national health insurance system. Each recommendation has been presented with its strength and level of evidence.

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.