1.Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study
Youngjae HUH ; Jaebon LEE ; Inha HWANG ; Ye Eun YOON ; Eun Jin LEE ; Taekyu LIM ; Jae Won YUN
Annals of Laboratory Medicine 2026;46(1):104-109
Although splenomegaly is typically uncommon in myelodysplastic syndromes (MDS), it is associated with reduced engraftment rates and poor survival outcomes. Despite its clinical significance, the incidence and genetic associations of splenomegaly in MDS remain understudied. To address this, we conducted a retrospective study of 27 patients with MDS at the Veterans Health Service Medical Center in South Korea. Based on computed tomography scan evaluation, splenomegaly was identified in 26% of patients with MDS, and significant associations with variants in ASXL1 (P = 0.0089 for null and missense/inframe variants) and RUNX1 (P = 0.042 for null variants) were observed, suggesting that these variants are linked to an increased risk of splenomegaly. Notably, one patient with ASXL1 and TET2 variants developed severe splenomegaly (spleen size, 29 cm) following granulocyte colony-stimulating factor (G-CSF) treatment, requiring splenectomy. This case suggests a potential interaction between specific genetic variants and G-CSF sensitivity, potentially exacerbating splenomegaly. Our findings suggest that the incidence of splenomegaly in patients with MDS, including mild cases, is likely underestimated and that ASXL1 and RUNX1 variants increase the risk of splenomegaly. Furthermore, careful monitoring for the development of severe splenomegaly during G-CSF treatment may be warranted in genetically susceptible individuals with MDS.
2.2025 Focused Update of the Seoul Consensus on Gastroesophageal Reflux Disease: Evidence-based Recommendations on Acid Suppressive Therapy
Cheal Wung HUH ; Jin Won CHANG ; Nak-Hoon SON ; Da Hyun JUNG ; Hye-Kyung JUNG ; Seung Joo KANG ; Seung Young KIM ; Miyoung CHOI ; Da Mi JEONG ; Hyun Jin KIM ; Moo In PARK ; In-Kyung SUNG ; Young Hoon YOUN ; Kwang Jae LEE ;
Journal of Neurogastroenterology and Motility 2026;32(1):7-18
Gastroesophageal reflux disease (GERD) is a chronic and relapsing gastrointestinal disorder characterized by the reflux of gastric contents into the esophagus, leading to troublesome symptoms and/or complications. Since the publication of the 2020 Seoul Consensus on GERD, significant new evidence has emerged, particularly regarding acid-suppressive therapies and diagnostic approaches. This 2025 focused update aims to refine GERD management strategies by incorporating the latest evidence on acid suppressive therapies and regional considerations in Asian populations. This study builds on the 2020 Seoul Consensus by integrating systematic reviews, meta-analyses, and expert consensuses to offer updated recommendations for the definition and medical treatment of GERD. These guidelines incorporate recent advances in acid-suppressive therapies, particularly potassium-competitive acid blockers, and adopt updated diagnostic frameworks in accordance with the Lyon Consensus 2.0. Key clinical questions were identified and structured using the following format: Population, Intervention, Comparator, Outcome. The resulting recommendations address the initial treatment, long-term maintenance strategies, and role of personalized therapy based on disease severity, such as the grade of reflux esophagitis. Six key statements are presented: updated definition and classification of GERD (Statement 1); initial and long-term treatment strategies tailored to GERD phenotypes, such as non-erosive reflux disease, mild erosive esophagitis, and severe erosive esophagitis (Statements 2-5); and dose optimization strategies for long-term safety (Statement 6). These guidelines aim to support gastroenterologists and general healthcare providers in making individualized evidence-based decisions for GERD management.
3.Guidelines for the Management of Adult Subglottic and Tracheal Stenosis From the Korean Bronchoesophagological Society
Jung-Hae CHO ; Gene HUH ; Jae-Keun CHO ; Jae Won CHANG ; Jun-Ook PARK ; Young Chan LEE ; Jae Hyun JEON ; Jeon Yeob JANG ; Byeong-Ho JEONG ; Yeon Soo KIM ; Inn-Chul NAM ; Gil Joon LEE ; Woo Sik YU ; Heejin KIM ; Minhyung LEE ; Ji Won KIM ; Seung Hoon WOO ; Il-Seok PARK ; Jin Pyeong KIM ;
Clinical and Experimental Otorhinolaryngology 2026;19(1):1-20
Subglottic stenosis (SGS) and tracheal stenosis (TS) are rare conditions that can cause significant breathing difficulties and, if not properly managed, may lead to life-threatening complications. Despite their clinical importance, debate continues regarding the optimal management of adult SGS and TS, and no comprehensive guidelines have been established to date. The Korean Bronchoesophagological Society appointed a task force to develop clinical practice guidelines with the goal of providing evidence-based recommendations for managing SGS and TS in adults. The task force conducted a systematic review of the relevant literature by searching PubMed, Embase, and the Cochrane Library using predefined search terms aligned with key clinical questions. The quality of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach, which also informed the formulation and reporting of the recommendations. The strength of each recommendation reflects the guideline panel’s confidence that the benefits of an intervention outweigh its risks for eligible patients. After drafting the guidelines, feedback was obtained through Delphi questionnaires completed by members of the Korean Bronchoesophagological Society. Ultimately, the committee developed 17 evidence-based recommendations across four categories: initial evaluation, medical management, surgical treatment, and postoperative management and rehabilitation. These guidelines aim to support clinicians in delivering optimal care to adult patients with SGS and TS.
4.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
5.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
6.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
7.Primary tumor sidedness is not prognostic factor in resectable colorectal cancer liver metastasis:a retrospective observational cohort study
Sung Jun JO ; Jongman KIM ; Jung Kyong SHIN ; Jinsoo RHU ; Jung Wook HUH ; Gyu-seong CHOI ; Jae-Won JOH
Annals of Surgical Treatment and Research 2024;107(5):264-273
Purpose:
Right-sided tumors have been reported to have a poorer survival rate than left-sided tumors; however, there remains debate regarding whether sidedness is an independent prognostic factor in colorectal cancer liver metastasis (CRLM). This study aimed to assess the impact of sidedness on prognosis in resectable CRLM and to identify prognostic factors.
Methods:
Patients who underwent liver resection for CRLM at Samsung Medical Center from January 2008 to December 2021 were included in the investigation. Overall survival (OS) and progression-free survival (PFS) were analyzed, and prognostic factors were identified.
Results:
A total of 497 patients were included in the study, with 106 on the right side and 391 on the left side. The rightsided group had a higher percentage of synchronous tumors (90.6% vs. 80.3%, P = 0.020). In survival analysis, the right side showed lower 5-year OS (49.7% vs. 54.2, P = 0.305) and 5-year PFS (57.1% vs. 60.2%, P = 0.271), but the differences were not statistically significant. In the analysis of prognostic factors, synchronous tumor (odds ratio [OR], 5.01; P < 0.001), CEA (OR, 1.46; P = 0.016), and maximum tumor size of hepatic metastasis (OR, 1.09; P = 0.026) were associated with OS.
Conclusion
In resectable CRLM, there was no difference in prognosis based on sidedness. CEA level, synchronous tumor, and maximum tumor size of hepatic metastasis were identified as prognostic factors.
8.Primary tumor sidedness is not prognostic factor in resectable colorectal cancer liver metastasis:a retrospective observational cohort study
Sung Jun JO ; Jongman KIM ; Jung Kyong SHIN ; Jinsoo RHU ; Jung Wook HUH ; Gyu-seong CHOI ; Jae-Won JOH
Annals of Surgical Treatment and Research 2024;107(5):264-273
Purpose:
Right-sided tumors have been reported to have a poorer survival rate than left-sided tumors; however, there remains debate regarding whether sidedness is an independent prognostic factor in colorectal cancer liver metastasis (CRLM). This study aimed to assess the impact of sidedness on prognosis in resectable CRLM and to identify prognostic factors.
Methods:
Patients who underwent liver resection for CRLM at Samsung Medical Center from January 2008 to December 2021 were included in the investigation. Overall survival (OS) and progression-free survival (PFS) were analyzed, and prognostic factors were identified.
Results:
A total of 497 patients were included in the study, with 106 on the right side and 391 on the left side. The rightsided group had a higher percentage of synchronous tumors (90.6% vs. 80.3%, P = 0.020). In survival analysis, the right side showed lower 5-year OS (49.7% vs. 54.2, P = 0.305) and 5-year PFS (57.1% vs. 60.2%, P = 0.271), but the differences were not statistically significant. In the analysis of prognostic factors, synchronous tumor (odds ratio [OR], 5.01; P < 0.001), CEA (OR, 1.46; P = 0.016), and maximum tumor size of hepatic metastasis (OR, 1.09; P = 0.026) were associated with OS.
Conclusion
In resectable CRLM, there was no difference in prognosis based on sidedness. CEA level, synchronous tumor, and maximum tumor size of hepatic metastasis were identified as prognostic factors.
9.Primary tumor sidedness is not prognostic factor in resectable colorectal cancer liver metastasis:a retrospective observational cohort study
Sung Jun JO ; Jongman KIM ; Jung Kyong SHIN ; Jinsoo RHU ; Jung Wook HUH ; Gyu-seong CHOI ; Jae-Won JOH
Annals of Surgical Treatment and Research 2024;107(5):264-273
Purpose:
Right-sided tumors have been reported to have a poorer survival rate than left-sided tumors; however, there remains debate regarding whether sidedness is an independent prognostic factor in colorectal cancer liver metastasis (CRLM). This study aimed to assess the impact of sidedness on prognosis in resectable CRLM and to identify prognostic factors.
Methods:
Patients who underwent liver resection for CRLM at Samsung Medical Center from January 2008 to December 2021 were included in the investigation. Overall survival (OS) and progression-free survival (PFS) were analyzed, and prognostic factors were identified.
Results:
A total of 497 patients were included in the study, with 106 on the right side and 391 on the left side. The rightsided group had a higher percentage of synchronous tumors (90.6% vs. 80.3%, P = 0.020). In survival analysis, the right side showed lower 5-year OS (49.7% vs. 54.2, P = 0.305) and 5-year PFS (57.1% vs. 60.2%, P = 0.271), but the differences were not statistically significant. In the analysis of prognostic factors, synchronous tumor (odds ratio [OR], 5.01; P < 0.001), CEA (OR, 1.46; P = 0.016), and maximum tumor size of hepatic metastasis (OR, 1.09; P = 0.026) were associated with OS.
Conclusion
In resectable CRLM, there was no difference in prognosis based on sidedness. CEA level, synchronous tumor, and maximum tumor size of hepatic metastasis were identified as prognostic factors.
10.Risk Factors for the Mortality of Patients With Coronavirus Disease 2019Requiring Extracorporeal Membrane Oxygenation in a Non-Centralized Setting: A Nationwide Study
Tae Wan KIM ; Won-Young KIM ; Sunghoon PARK ; Su Hwan LEE ; Onyu PARK ; Taehwa KIM ; Hye Ju YEO ; Jin Ho JANG ; Woo Hyun CHO ; Jin-Won HUH ; Sang-Min LEE ; Chi Ryang CHUNG ; Jongmin LEE ; Jung Soo KIM ; Sung Yoon LIM ; Ae-Rin BAEK ; Jung-Wan YOO ; Ho Cheol KIM ; Eun Young CHOI ; Chul PARK ; Tae-Ok KIM ; Do Sik MOON ; Song-I LEE ; Jae Young MOON ; Sun Jung KWON ; Gil Myeong SEONG ; Won Jai JUNG ; Moon Seong BAEK ;
Journal of Korean Medical Science 2024;39(8):e75-
Background:
Limited data are available on the mortality rates of patients receiving extracorporeal membrane oxygenation (ECMO) support for coronavirus disease 2019 (COVID-19). We aimed to analyze the relationship between COVID-19 and clinical outcomes for patients receiving ECMO.
Methods:
We retrospectively investigated patients with COVID-19 pneumonia requiring ECMO in 19 hospitals across Korea from January 1, 2020 to August 31, 2021. The primary outcome was the 90-day mortality after ECMO initiation. We performed multivariate analysis using a logistic regression model to estimate the odds ratio (OR) of 90-day mortality. Survival differences were analyzed using the Kaplan–Meier (KM) method.
Results:
Of 127 patients with COVID-19 pneumonia who received ECMO, 70 patients (55.1%) died within 90 days of ECMO initiation. The median age was 64 years, and 63% of patients were male. The incidence of ECMO was increased with age but was decreased after 70 years of age. However, the survival rate was decreased linearly with age. In multivariate analysis, age (OR, 1.048; 95% confidence interval [CI], 1.010–1.089; P = 0.014) and receipt of continuous renal replacement therapy (CRRT) (OR, 3.069; 95% CI, 1.312–7.180; P = 0.010) were significantly associated with an increased risk of 90-day mortality. KM curves showed significant differences in survival between groups according to age (65 years) (log-rank P = 0.021) and receipt of CRRT (log-rank P = 0.004).
Conclusion
Older age and receipt of CRRT were associated with higher mortality rates among patients with COVID-19 who received ECMO.

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