1.Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo KIM ; Seungbok LEE ; Jae So CHO ; Jihoon G YOON ; Sheehyun KIM ; Man Jin KIM ; Jong Hee CHAE ; Manho KIM ; Jangsup MOON
Journal of Movement Disorders 2025;18(1):93-95
2.Long-Term Incidence of Gastrointestinal Bleeding Following Ischemic Stroke
Jun Yup KIM ; Beom Joon KIM ; Jihoon KANG ; Do Yeon KIM ; Moon-Ku HAN ; Seong-Eun KIM ; Heeyoung LEE ; Jong-Moo PARK ; Kyusik KANG ; Soo Joo LEE ; Jae Guk KIM ; Jae-Kwan CHA ; Dae-Hyun KIM ; Tai Hwan PARK ; Kyungbok LEE ; Hong-Kyun PARK ; Yong-Jin CHO ; Keun-Sik HONG ; Kang-Ho CHOI ; Joon-Tae KIM ; Dong-Eog KIM ; Jay Chol CHOI ; Mi-Sun OH ; Kyung-Ho YU ; Byung-Chul LEE ; Kwang-Yeol PARK ; Ji Sung LEE ; Sujung JANG ; Jae Eun CHAE ; Juneyoung LEE ; Min-Surk KYE ; Philip B. GORELICK ; Hee-Joon BAE ;
Journal of Stroke 2025;27(1):102-112
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.
3.Whole genome sequencing analysis of enteropathogenic Escherichia coli from human and companion animals in Korea
Jae Young OH ; Kyung-Hyo DO ; Jae Hong JEONG ; SuMin KWAK ; Sujin CHOE ; Dongheui AN ; Jong-Chan CHAE ; Kwangjun LEE ; Kwang-Won SEO
Journal of Veterinary Science 2025;26(1):e1-
Objective:
To improve our understanding of EPEC, this study focused on analyzing and comparing the genomic characteristics of EPEC isolates from humans and companion animals in Korea.
Methods:
The whole genome of 26 EPEC isolates from patients with diarrhea and 20 EPEC isolates from companion animals in Korea were sequenced using the Illumina HiSeq X (Illumina, USA) and Oxford Nanopore MinION (Oxford Nanopore Technologies, UK) platforms.
Results:
Most isolates were atypical EPEC, and did not harbor the bfpA gene. The most prevalent virulence genes were found to be ompT (humans: 61.5%; companion animals:60.0%) followed by lpfA (humans: 46.2%; companion animals: 60.0%). Although pangenome analyses showed no apparent correlation among the origin of the strains, virulence profiles, and antimicrobial resistance profiles, isolates included in clade A obtained from both humans and companion animals exhibited high similarity. Additionally, all the isolates included in clade A encoded the ompT gene and did not encode the hlyE gene. The two isolates from companion animals harbored an incomplete bundle-forming pilus region encoding bfpA and bfpB. Moreover, the type IV secretion system-associated genes tra and trb were found in the bfpA-encoding isolates from humans.
Conclusions
and Relevance: Whole-genome sequencing enabled a more accurate analysis of the phylogenetic structure of EPEC and provided better insights into the understanding of EPEC epidemiology and pathogenicity.
4.Complete or incomplete revascularization in patients with left main culprit lesion acute myocardial infarction with multivessel disease: a retrospective observational study
Sun Oh KIM ; Hong-Ju KIM ; Jong-Il PARK ; Kang-Un CHOI ; Jong-Ho NAM ; Chan-Hee LEE ; Jang-Won SON ; Jong-Seon PARK ; Sung-Ho HER ; Ki-Yuk CHANG ; Tae-Hoon AHN ; Myung-Ho JEONG ; Seung-Woon RHA ; Hyo-Soo KIM ; Hyeon-Cheol GWON ; In-Whan SEONG ; Kyung-Kuk HWANG ; Seung-Ho HUR ; Kwang-Soo CHA ; Seok-Kyu OH ; Jei-Keon CHAE ; Ung KIM
Journal of Yeungnam Medical Science 2025;42(1):18-
Background:
Complete revascularization has demonstrated better outcomes in patients with acute myocardial infarction (AMI) and multivessel disease. However, in the case of left main (LM) culprit lesion AMI with multivessel disease, there is limited evidence to suggest that complete revascularization is better.
Methods:
We reviewed 16,831 patients in the Korea Acute Myocardial Infarction Registry who were treated from July 2016 to June 2020, and 399 patients were enrolled with LM culprit lesion AMI treated with percutaneous coronary intervention. We categorized the patients as those treated with complete revascularization (n=295) or incomplete revascularization (n=104). The study endpoint was major adverse cardiac and cerebrovascular events (MACCE), a composite of all-cause death, myocardial infarction, ischemia-driven revascularization, stent thrombosis, and stroke. We performed propensity score matching (PSM) and analyzed the incidence of MACCE at 1 year.
Results:
After PSM, the two groups were well balanced. There was no significant difference between the two groups in MACCE at 1 year (12.1% vs. 15.2%; hazard ratio, 1.28; 95% confidence interval, 0.60–2.74; p=0.524) after PSM. The components of MACCE and major bleeding were also not significantly different.
Conclusion
There was no significant difference in clinical outcomes between the groups treated with complete or incomplete revascularization for LM culprit lesion AMI with multivessel disease.
5.Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months
Yun Jeong LEE ; Hyunwoo BAE ; Young Kyu SHIM ; Jae So CHO ; Jong Hee CHAE ; Soonhak KWON
Annals of Child Neurology 2025;33(2):39-47
Purpose:
This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease-modifying treatments.
Methods:
A 14-month observational study was conducted to evaluate changes in HRQoL and functional performance using the Pediatric Quality of Life Inventory (PedsQL) Infant Scales and the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). Caregiver burden was assessed through the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND). Motor function was evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Correlations between CHOP INTEND scores, functional performance, and caregiver burden were analyzed.
Results:
Eight patients with infantile-onset SMA and their caregivers participated, with a median treatment initiation age of 4.6 months (range, 1.1 to 15.1). CHOP INTEND scores showed significant improvement (P<0.001), whereas all PedsQL Infant Scale scores declined. Conversely, the PEDI-CAT revealed significant enhancements in daily activities, mobility, and social-cognitive domains (all P<0.001). Caregiver burden lessened across most dimensions (P<0.001), with the exception of the time-related burden (P=0.731). Higher CHOP INTEND scores correlated with improvements in PEDI-CAT domains and a reduction in caregiver burden related to sitting/play and transfer activities.
Conclusion
The study demonstrates the positive effects of nusinersen on functional performance and caregiver burden in patients with infantile-onset SMA. However, discrepancies were observed in HRQoL outcomes, suggesting a need for further research that includes SMA-specific outcome measures to comprehensively assess the treatment's impact on patients' lives.
6.Whole genome sequencing analysis of enteropathogenic Escherichia coli from human and companion animals in Korea
Jae Young OH ; Kyung-Hyo DO ; Jae Hong JEONG ; SuMin KWAK ; Sujin CHOE ; Dongheui AN ; Jong-Chan CHAE ; Kwangjun LEE ; Kwang-Won SEO
Journal of Veterinary Science 2025;26(1):e1-
Objective:
To improve our understanding of EPEC, this study focused on analyzing and comparing the genomic characteristics of EPEC isolates from humans and companion animals in Korea.
Methods:
The whole genome of 26 EPEC isolates from patients with diarrhea and 20 EPEC isolates from companion animals in Korea were sequenced using the Illumina HiSeq X (Illumina, USA) and Oxford Nanopore MinION (Oxford Nanopore Technologies, UK) platforms.
Results:
Most isolates were atypical EPEC, and did not harbor the bfpA gene. The most prevalent virulence genes were found to be ompT (humans: 61.5%; companion animals:60.0%) followed by lpfA (humans: 46.2%; companion animals: 60.0%). Although pangenome analyses showed no apparent correlation among the origin of the strains, virulence profiles, and antimicrobial resistance profiles, isolates included in clade A obtained from both humans and companion animals exhibited high similarity. Additionally, all the isolates included in clade A encoded the ompT gene and did not encode the hlyE gene. The two isolates from companion animals harbored an incomplete bundle-forming pilus region encoding bfpA and bfpB. Moreover, the type IV secretion system-associated genes tra and trb were found in the bfpA-encoding isolates from humans.
Conclusions
and Relevance: Whole-genome sequencing enabled a more accurate analysis of the phylogenetic structure of EPEC and provided better insights into the understanding of EPEC epidemiology and pathogenicity.
7.Complete or incomplete revascularization in patients with left main culprit lesion acute myocardial infarction with multivessel disease: a retrospective observational study
Sun Oh KIM ; Hong-Ju KIM ; Jong-Il PARK ; Kang-Un CHOI ; Jong-Ho NAM ; Chan-Hee LEE ; Jang-Won SON ; Jong-Seon PARK ; Sung-Ho HER ; Ki-Yuk CHANG ; Tae-Hoon AHN ; Myung-Ho JEONG ; Seung-Woon RHA ; Hyo-Soo KIM ; Hyeon-Cheol GWON ; In-Whan SEONG ; Kyung-Kuk HWANG ; Seung-Ho HUR ; Kwang-Soo CHA ; Seok-Kyu OH ; Jei-Keon CHAE ; Ung KIM
Journal of Yeungnam Medical Science 2025;42(1):18-
Background:
Complete revascularization has demonstrated better outcomes in patients with acute myocardial infarction (AMI) and multivessel disease. However, in the case of left main (LM) culprit lesion AMI with multivessel disease, there is limited evidence to suggest that complete revascularization is better.
Methods:
We reviewed 16,831 patients in the Korea Acute Myocardial Infarction Registry who were treated from July 2016 to June 2020, and 399 patients were enrolled with LM culprit lesion AMI treated with percutaneous coronary intervention. We categorized the patients as those treated with complete revascularization (n=295) or incomplete revascularization (n=104). The study endpoint was major adverse cardiac and cerebrovascular events (MACCE), a composite of all-cause death, myocardial infarction, ischemia-driven revascularization, stent thrombosis, and stroke. We performed propensity score matching (PSM) and analyzed the incidence of MACCE at 1 year.
Results:
After PSM, the two groups were well balanced. There was no significant difference between the two groups in MACCE at 1 year (12.1% vs. 15.2%; hazard ratio, 1.28; 95% confidence interval, 0.60–2.74; p=0.524) after PSM. The components of MACCE and major bleeding were also not significantly different.
Conclusion
There was no significant difference in clinical outcomes between the groups treated with complete or incomplete revascularization for LM culprit lesion AMI with multivessel disease.
8.Gaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care
Kuenyoul PARK ; Min-Sun KIM ; YeJin OH ; John Hoon RIM ; Shinae YU ; Hyejin RYU ; Eun-Jung CHO ; Kyunghoon LEE ; Ha Nui KIM ; Inha CHUN ; AeKyung KWON ; Sollip KIM ; Jae-Woo CHUNG ; Hyojin CHAE ; Ji Seon OH ; Hyung-Doo PARK ; Mira KANG ; Yeo-Min YUN ; Jong-Baeck LIM ; Young Kyung LEE ; Sail CHUN
Journal of Korean Medical Science 2025;40(1):e4-
Background:
The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods:
We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes.
Results:
A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%).
Conclusion
This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.
9.Gaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care
Kuenyoul PARK ; Min-Sun KIM ; YeJin OH ; John Hoon RIM ; Shinae YU ; Hyejin RYU ; Eun-Jung CHO ; Kyunghoon LEE ; Ha Nui KIM ; Inha CHUN ; AeKyung KWON ; Sollip KIM ; Jae-Woo CHUNG ; Hyojin CHAE ; Ji Seon OH ; Hyung-Doo PARK ; Mira KANG ; Yeo-Min YUN ; Jong-Baeck LIM ; Young Kyung LEE ; Sail CHUN
Journal of Korean Medical Science 2025;40(1):e4-
Background:
The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods:
We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes.
Results:
A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%).
Conclusion
This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.
10.Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children
Ji Yeon HAN ; Soo Yeon KIM ; Woojoong KIM ; Hunmin KIM ; Anna CHO ; Jieun CHOI ; Jong-Hee CHAE ; Ki Joong KIM ; Young Se KWON ; Il Han YOO ; Byung Chan LIM
Journal of Clinical Neurology 2025;21(1):65-73
Background:
and Purpose To determine the clinical phenotypes, relapse timing, treatment responses, and outcomes of children with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).
Methods:
We collected the demographic, clinical, laboratory, and radiological data of patients aged <18 years who had been diagnosed with MOGAD at Seoul National University Children’s Hospital between January 2010 and January 2022; 100 were identified as positive for MOG antibodies, 43 of whom experienced relapse.
Results:
The median age at onset was 7 years (range 2–16 years). The median number of relapses was 2 (range 1–8), and patients were followed up for a median of 65 months (range 5–214 months). The first relapse was experienced before 3 months from onset by 15 patients (34.9%). The most-common initial phenotypes were acute disseminated encephalomyelitis (n=17, 39.5%) and optic neuritis (ON; n=11, 25.6%). The most-common relapse phenotypes were neuromyelitis optica spectrum disorder (n=9, 20.9%), relapsing ON (n=6, 14.0%), and multiphasic disseminated encephalomyelitis (n=6, 14.0%). Many of the patients (n=18, 41.9%) were not specifically categorized. A high proportion of these patients had non-acute disseminated encephalomyelitis encephalitis. Atypical phenotypes such as prolonged fever or hemiplegic migraine-like episodes were also noted. Mycophenolate mofetil and cyclic immunoglobulin treatment significantly reduced the annual relapse rates.
Conclusions
Our 43 pediatric patients with relapsing MOGAD showed a tendency toward early relapse and various relapse phenotypes. The overall prognoses of these patients were good regardless of phenotype or response to second-line immunosuppressant treatment.

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