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.

Purpose: Endoscopic submucosal dissection (ESD) has become a standard minimally invasive treatment for selected patients with early gastric cancer (EGC). This study presents the first nationwide survey of patients with EGC treated with ESD in 2023, conducted by the Korean College of Helicobacter and Upper Gastrointestinal Research. Materials and Methods: Data were retrospectively collected from participating referral centers across Korea using a standardized case report form covering patient characteristics, tumor features, procedural details, histopathological findings, and clinical outcomes.Descriptive and comparative analyses were conducted to summarize nationwide ESD practice patterns and outcomes. Results: Data from 5,460 ESD cases from 5,250 patients across 27 institutions were analyzed. The mean age was 67.4 years, with 74.1% males. Multiple synchronous lesions were identified in 3.7%. Most lesions were located in the lower third of the stomach (64.0%), and differentiated-type adenocarcinomas accounted for 87.8%. The en bloc and complete resection rates were 99.2% and 91.4%, respectively. Curative resection was achieved in 80.5%, whereas local non-curative resection (L-NCR) and surgical non-curative resection (S-NCR) were identified in 2.8% and 16.7%, respectively. Additional surgery was performed more frequently in patients with S-NCR than in those with L-NCR (59.3% vs. 24.7%). The bleeding and perforation rates were 3.6% and 0.9%, respectively, and were mostly managed conservatively or endoscopically. The median length of hospitalization was 4.0 days. Conclusions This first nationwide survey provides a comprehensive overview of the current practice of EGC treatment using ESD in Korea, demonstrating high technical success and safety, and establishing a baseline dataset for future longitudinal research.

Background/Aims: Gastroesophageal reflux disease (GERD) after peroral endoscopic myotomy (POEM) is a significant challenge. Disruption of the lower esophageal sphincter during POEM and dysfunction of the crural diaphragm, which contributes to esophagogastric junction pressure, may lead to GERD after POEM. We aim to identify predictors of GERD after POEM and focus on physiological parameters of esophagogastric junction pressure in patients with achalasia before POEM. Methods: We retrospectively analyzed a prospectively collected database of patients who underwent POEM between July 2016 and August 2023. Ninety-two patients with achalasia who underwent high-resolution manometry and endoscopy before and after POEM were included. Results: Forty-nine (53.3%) patients were diagnosed with GERD. Patient demographics, achalasia subtypes, prior treatments, myotomy length, and myotomy orientation were not associated with GERD after POEM. Loss of inspiratory augmentation before POEM was associated with GERD after POEM (P < 0.05). GERD occurred more frequently in patients with a shorter intra-abdominal lower esophageal sphincter length before POEM. Type III esophagogastric junction morphology in the GERD group (37.1%) was more common than that in the non-GERD group (15.8%). Loss of inspiratory augmentation occurred more frequently in patients with type III esophagogastric junction pressure morphology. Conclusion Loss of inspiratory augmentation may predict GERD after POEM.

Objectives: This study investigated medication perceptions, adherence patterns, self-discontinuation experiences, and information sources among psychiatric outpatients to provide evidence for improving adherence strategies. Methods: A cross-sectional survey was conducted with 79 outpatients from a University Hospital, Department of Psychiatry. Self-administered questionnaires assessed diagnostic awareness, medication perceptions, adherence behaviors, discontinuation experiences, side effects, and information sources. Results: Overall, 89.7% knew their psychiatric diagnosis and 88.2% perceived medication as effective. While 73.1% rarely forgot medication, 35.9% had previously self-discontinued treatment. Medication adherence was significantly associated with previous discontinuation experience (p=0.006), whereas diagnostic awareness and efficacy perception were not. Primary discontinuation reasons were symptom improvement (53.6%) and physical discomfort (35.7%). Common side effects included weight gain (n=31), daytime drowsiness (n=26), memory impairment (n=24), and concentration problems (n=22). Patients primarily obtained side effect information from TV/internet (27.8%) rather than healthcare providers (20.3%). Most patients desired additional information about side effects (57.0%) and medication effects (54.4%). Conclusion Daily medication-taking behaviors were more predictive of treatment discontinuation than cognitive factors in this outpatient sample. Discontinuation due to symptom improvement and reliance on non-medical information sources highlights the need for enhanced patient education regarding relapse risks and systematic provision of accurate medication information.

Purpose: Alectinib has been approved for anaplastic lymphoma kinase (ALK)–positive non–small cell lung cancer (NSCLC) at 300 mg twice daily in Japan, lower than global standard of 600 mg twice daily. This study evaluated the clinical relevance of the reduced dose by comparing outcomes between the two doses. Materials and Methods: This study included patients with advanced ALK-positive NSCLC who received alectinib at Samsung Medical Center, Korea. The progression-free survival (PFS), overall survival, cumulative incidence of central nervous system (CNS) progression, and safety profiles were retrospectively reviewed and compared. Results: Among 306 patients, 32 and 274 received alectinib at either 300 or 600 mg twice daily, respectively. The 300 mg group showed a slight but not significant advantage in PFS (hazard ratio [HR], 0.82; 95% confidence interval [CI], 0.44 to 1.51; p=0.51) and overall survival (HR, 0.51; 95% CI, 0.20 to 1.21; p=0.13). Superior outcome with 300 mg was remarkable in patients with lower body weight (≤ 60 kg), but diminished in patients with higher body weights. Patients with baseline brain metastasis in the 300 mg group exhibited a slight increase in incidence of CNS failure (HR, 1.76; 95% CI, 0.53 to 5.8; p=0.36). Although the safety profiles were mostly mild, adverse events were more frequent in the 600 mg group, 50% of which requiring dose reduction. Conclusion Alectinib at 300 mg twice daily seems an acceptable dose in East Asians with ALK-positive NSCLC. Notably, our data favor 300 mg twice daily in patients with lower body weight and no baseline brain metastasis, considering the more tolerable safety profiles and the potential to reduce medical costs.

Purpose: Considering the current lack of consensus on post–poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi) treatment strategies, this study aimed to evaluate the efficacy of subsequent therapy and compare the outcomes of regimes in patients with recurrent ovarian cancer after PARPi treatment. Materials and Methods: This multi-center retrospective cohort study analyzed data on patients diagnosed with ovarian cancer between January 2012 and June 2023 who had previously used PARPi after first- to fourth-line platinum-based chemotherapy. The primary endpoint was progression-free survival (PFS), which was the interval between recurrence after using PARPi and subsequent recurrence in the case of recurrence. Results: Of 318 patients, 147/318 (46.2%) recurred after the PARPi maintenance. Patients were categorized into groups based on subsequent therapy except non-treated (11/147, 7.5%): platinum-based chemotherapy (89/147, 60.5%), non-platinum-based chemotherapy (21/147, 14.3%), other treatments (26/147, 17.7%), and the median PFS (mPFS) for each group were 7.3, 4.8, and 11.4 months, respectively. Among the platinum-based chemotherapy group, the gemcitabine+carboplatin regimen demonstrated a longer mPFS (10.1 months) than the other regimens (6.6 months, p=0.019). In non-platinum-based chemotherapy, no statistically significant differences were observed among the regimens. And, in the other therapy group, where the proportion of patients with oligometastasis was as high as 88.5%, no significant differences were observed among the therapies, including other modalities. Conclusion In the subsequent chemotherapy of recurrent ovarian cancer after platinum-based chemotherapy and PARPi, the gemcitabine+carboplatin regimen demonstrated a potential to delay recurrence more effectively compared to other therapies.

Purpose: Topical hemostatic powders may help limit blood loss when applied to a wound early in the course of bleeding. This study evaluated the effectiveness and safety of a hemostatic powder composed of carboxymethyl starch and calcium ions for reducing hemorrhagic complications (specifically hemoglobin loss) after transrectal prostate biopsy. Materials and Methods: In this randomized controlled trial, 95 patients undergoing transrectal prostate biopsy received either hemostatic powder with povidone-iodine–soaked gauze or povidone-iodine–soaked gauze alone. The primary outcome was hemoglobin level measured before biopsy and 1 day after biopsy. Secondary outcomes included the incidence of hematuria, hematochezia, infection, and other complications. Results: Postbiopsy hemoglobin levels did not differ significantly between the control (12.3±1.6 g/dL) and experimental (12.2±1.8 g/dL) groups (p=0.872). In both groups, hemoglobin level decreased significantly from 13.1±1.9 g/dL before biopsy to 12.2±1.8 g/dL after biopsy (p<0.001). Hematuria occurred in 95.1% of the experimental group and 87.2% of the control group (p=0.389). The incidence of hematochezia was significantly lower in the experimental group (18.8%) than in the control group (59.6%) (p<0.001). No significant differences were observed in other complications, including infection, urinary retention, and transfusion requirement. No severe adverse events were reported in either group. Conclusion Application of the hemostatic powder did not prevent postbiopsy hemoglobin decline; however, it significantly reduced the incidence of hematochezia. The procedure appeared safe in this trial, although further studies are needed to identify more effective strategies to prevent cumulative hemoglobin loss after transrectal prostate biopsy.

Purpose: Atypical hyperplasia (AH) management remains controversial due to variable malignant disease progression rates. While Western studies report 10% to 25% upgrade rates, data from Asian populations, particularly from referral academic centers, are limited. We aimed to identify predictive factors for malignant upgrade in Korean women with AH at academic hospitals. Methods: This retrospective multi-institutional study analyzed 340 patients diagnosed with AH on initial biopsy who underwent subsequent excision at five Korean academic hospitals from 2000 to 2022. Malignant upgrade was defined as ductal carcinoma in situ or invasive cancer on the final pathology. Multivariate logistic regression was used to identify independent predictors of upgrades. Results: Among 340 patients (319 atypical ductal hyperplasia, 20 atypical lobular hyperplasia, and 1 mixed), 128 (37.6%) experienced a malignant upgrade, 98 (76.6%) to ductal carcinoma in situ, and 30 (23.4%) to invasive cancer. In multivariate analysis, multifocal atypia (odds ratio [OR], 25.61; 95% confidence interval [CI], 11.20–58.55; P<0.001) and Breast Imaging-Reporting and Data System 4c-5 lesions (OR, 11.02; 95% CI, 1.43–84.86; P=0.021) were significant predictors. Multifocal atypia showed an 84.4% upgrade rate. Core needle biopsy had higher upgrade rates than vacuum-assisted biopsy (45.2% vs. 20.0%; P<0.001). The upgrade rates decreased from 50% to 25% over the study period (P<0.05). Conclusion The 37.6% upgrade rate in this tertiary referral cohort exceeded that in Western reports, with multifocal atypia emerging as the strongest predictor. These findings support immediate excision for multifocal atypia while allowing individualized management for unifocal lesions with favorable imaging in Korean tertiary care settings.

Accurate and early identification of stroke and large vessel occlusion (LVO) in emergency settings is essential for improving patient outcomes and ensuring the efficient allocation of medical resources. This clinical practice guideline systematically reviews domestic and international literature and conducts meta-analyses to evaluate the utility and diagnostic accuracy of stroke assessment tools used in prehospital emergency medical services (EMS). We developed a guideline based on evidence from systematic reviews and meta-analyses via a de novo process. A systematic literature review was conducted to evaluate the usefulness of diagnostic EMS assessment tools for diagnosing stroke and LVO. Overall, 70 non-randomized control studies were selected for this study. A meta-analysis was conducted with a subgroup analysis to distinguish between patients with stroke and those with LVO. EMS tools demonstrated high sensitivity but low specificity for diagnosing stroke. In the prehospital setting, using validated EMS stroke assessment tools is recommended for the early identification of stroke and LVO. Upon hospital arrival, stroke specialists should conduct further evaluation and triage to confirm the diagnosis and guide appropriate management. Delays in diagnosing LVO are frequently unacceptable. While experts advocate for the use of EMS assessment tools to facilitate early identification of LVO, these tools alone lack adequate sensitivity. Therefore, further diagnostic evaluations and consultation with stroke specialists upon hospital arrival are recommended.