1.Chromosomal Rearrangements in 1,787 Cases of Acute Leukemia in Korea over 15 Years
DongGeun SON ; Ho Cheol JANG ; Young Eun LEE ; Yong Jun CHOI ; Joo Heon PARK ; Ha Jin LIM ; Hyun-Jung CHOI ; Hee Jo BAEK ; Hoon KOOK ; Mihee KIM ; Ga-Young SONG ; Seo-Yeon AHN ; Sung-Hoon JUNG ; Deok-Hwan YANG ; Je-Jung LEE ; Hyeonug-Joon KIM ; Jae-Sook AHN ; Myung-Geun SHIN
Annals of Laboratory Medicine 2025;45(4):391-398
Background:
Chromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods.
Methods:
We retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006–2009 (I), 2010–2015 (II), and 2016–2020 (III).
Results:
Chromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients.ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common.
Conclusions
The frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.
2.A Study on the Healthcare Workforce and Care for Acute Stroke: Results From the Survey of Hospitals Included in the National Acute Stroke Quality Assessment Program
Jong Young LEE ; Jun Kyeong KO ; Hak Cheol KO ; Hae-Won KOO ; Hyon-Jo KWON ; Dae-Won KIM ; Kangmin KIM ; Myeong Jin KIM ; Hoon KIM ; Keun Young PARK ; Kuhyun YANG ; Jae Sang OH ; Won Ki YOON ; Dong Hoon LEE ; Ho Jun YI ; Heui Seung LEE ; Jong-Kook RHIM ; Dong-Kyu JANG ; Youngjin JUNG ; Sang Woo HA ; Seung Hun SHEEN
Journal of Korean Medical Science 2025;40(16):e44-
Background:
With growing elderly populations, management of patients with acute stroke is increasingly important. In South Korea, the Acute Stroke Quality Assessment Program (ASQAP) has contributed to improving the quality of stroke care and practice behavior in healthcare institutions. While the mortality of hemorrhagic stroke remains high, there are only a few assessment indices associated with hemorrhagic stroke. Considering the need to develop assessment indices to improve the actual quality of care in the field of acute stroke treatment, this study aims to investigate the current status of human resources and practices related to the treatment of patients with acute stroke through a nationwide survey.
Methods:
For the healthcare institutions included in the Ninth ASQAP of the Health Insurance Review and Assessment Service (HIRA), data from January 2022 to December 2022 were collected through a survey on the current status and practice of healthcare providers related to the treatment of patients with acute stroke. The questionnaire consisted of 19 items, including six items on healthcare providers involved in stroke care and 10 items on the care of patients with acute stroke.
Results:
In the treatment of patients with hemorrhagic stroke among patients with acute stroke, neurosurgeons were the most common providers. The contribution of neurosurgeons in the treatment of ischemic stroke has also been found to be equivalent to that of neurologists. However, a number of institutions were found to be devoid of healthcare providers who perform definitive treatments, such as intra-arterial thrombectomy for patients with ischemic stroke or cerebral aneurysm clipping for subarachnoid hemorrhage. The intensity of the workload of healthcare providers involved in the care of patients with acute stroke, especially those involved in definitive treatment, was also found to be quite high.
Conclusion
Currently, there are almost no assessment indices specific to hemorrhagic stroke in the ASQAP for acute stroke. Furthermore, it does not reflect the reality of the healthcare providers and practices that provide definitive treatment for acute stroke. The findings of this study suggest the need for the development of appropriate assessment indices that reflect the realities of acute stroke care.
3.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
4.Insights Into JKMS Submissions and Medical Journal Publications in Korea
Jaehun JUNG ; Yumi JANG ; Munkhzul RADNAABAATAR ; Dae Sun JO ; Jong-Min KIM ; Jin-Hong YOO
Journal of Korean Medical Science 2025;40(1):e76-
We analyzed the publication and submission statuses of Korean medical journals from 2010 to 2024, amidst challenges impacting researchers. Data from 58 domestic journals identified through the 2023 JCR database were used to assess publication status, while data from the Journal of Korean Medical Science (JKMS) were utilized to examine submission status.The proportion of published original articles by domestic authors decreased by 3% in 2024 compared to 2023. Submissions to JKMS also decreased overall, except for slight increases in May and October 2024. In contrast, international submissions to JKMS showed consistent growth, surpassing the 15-year average, reflecting growing global interest. Addressing issues, including medical school admission policies and the lingering effects of coronavirus disease 2019, is vital to ensure a sustainable and thriving medical research environment in Korea.
5.Dementia Overdiagnosis in Younger, Higher Educated Individuals Based on MMSE Alone: Analysis Using Deep Learning Technology
Hye-Geum KIM ; Dai-Seg BAI ; Bon-Hoon KOO ; Eun-Jin CHEON ; Seokho YUN ; So Hye JO ; Byoungyoung GU
Journal of Korean Medical Science 2025;40(9):e20-
Background:
Dementia is a multifaceted disorder that affects cognitive function, necessitating accurate diagnosis for effective management and treatment. Although the Mini-Mental State Examination (MMSE) is widely used to assess cognitive impairment, its standalone efficacy is debated. This study examined the effectiveness of the MMSE alone versus in combination with other cognitive assessments in predicting dementia diagnosis, with the aim of refining the diagnostic accuracy for dementia.
Methods:
A total of 2,863 participants with subjective cognitive complaints who underwent comprehensive neuropsychological assessments were included. We developed two random forest models: one using only the MMSE and another incorporating additional cognitive tests.These models were evaluated based on their accuracy, precision, recall, F1-score, and area under the receiver operating characteristic curve (AUC) on a 70:30 training-to-testing split.
Results:
The MMSE-alone model predicted dementia with an accuracy of 86% and AUC of 0.872. The expanded model demonstrated increased accuracy (88%) and an AUC of 0.934.Notably, 17.46% of the cases were reclassified from dementia to non-dementia category upon including additional tests. Higher educational level and younger age were associated with these shifts.
Conclusion
The findings suggest that although the MMSE is a valuable screening tool, it should not be used in isolation to determine dementia severity. The addition of diverse cognitive assessments can significantly enhance diagnostic precision, particularly in younger and more educated populations. Future diagnostic protocols should integrate multifaceted cognitive evaluations to reflect the complexity of dementia accurately.
6.A Study on the Healthcare Workforce and Care for Acute Stroke: Results From the Survey of Hospitals Included in the National Acute Stroke Quality Assessment Program
Jong Young LEE ; Jun Kyeong KO ; Hak Cheol KO ; Hae-Won KOO ; Hyon-Jo KWON ; Dae-Won KIM ; Kangmin KIM ; Myeong Jin KIM ; Hoon KIM ; Keun Young PARK ; Kuhyun YANG ; Jae Sang OH ; Won Ki YOON ; Dong Hoon LEE ; Ho Jun YI ; Heui Seung LEE ; Jong-Kook RHIM ; Dong-Kyu JANG ; Youngjin JUNG ; Sang Woo HA ; Seung Hun SHEEN
Journal of Korean Medical Science 2025;40(16):e44-
Background:
With growing elderly populations, management of patients with acute stroke is increasingly important. In South Korea, the Acute Stroke Quality Assessment Program (ASQAP) has contributed to improving the quality of stroke care and practice behavior in healthcare institutions. While the mortality of hemorrhagic stroke remains high, there are only a few assessment indices associated with hemorrhagic stroke. Considering the need to develop assessment indices to improve the actual quality of care in the field of acute stroke treatment, this study aims to investigate the current status of human resources and practices related to the treatment of patients with acute stroke through a nationwide survey.
Methods:
For the healthcare institutions included in the Ninth ASQAP of the Health Insurance Review and Assessment Service (HIRA), data from January 2022 to December 2022 were collected through a survey on the current status and practice of healthcare providers related to the treatment of patients with acute stroke. The questionnaire consisted of 19 items, including six items on healthcare providers involved in stroke care and 10 items on the care of patients with acute stroke.
Results:
In the treatment of patients with hemorrhagic stroke among patients with acute stroke, neurosurgeons were the most common providers. The contribution of neurosurgeons in the treatment of ischemic stroke has also been found to be equivalent to that of neurologists. However, a number of institutions were found to be devoid of healthcare providers who perform definitive treatments, such as intra-arterial thrombectomy for patients with ischemic stroke or cerebral aneurysm clipping for subarachnoid hemorrhage. The intensity of the workload of healthcare providers involved in the care of patients with acute stroke, especially those involved in definitive treatment, was also found to be quite high.
Conclusion
Currently, there are almost no assessment indices specific to hemorrhagic stroke in the ASQAP for acute stroke. Furthermore, it does not reflect the reality of the healthcare providers and practices that provide definitive treatment for acute stroke. The findings of this study suggest the need for the development of appropriate assessment indices that reflect the realities of acute stroke care.
7.Delayed Diagnosis of Imported Cystic Echinococcosis and Successful Treatment With Percutaneous Drainage and Albendazole in Korea: A Case Report
Won Jun CHOI ; Hanna JIN ; Hyeon Jae JO ; Chan Mi LEE ; Chang Kyung KANG ; Pyoeng Gyun CHOE ; Wan Beom PARK ; Nam Joong KIM ; Min-Ho CHOI
Journal of Korean Medical Science 2025;40(4):e88-
Echinococcosis, caused by the tapeworm Echinococcus, is rare in Korea and is primarily imported from endemic areas. We report a case of a 37-year-old Korean man with multiple large hepatic cysts, initially diagnosed as simple cysts at a local clinic in 2018. The patient had lived in Oman, an endemic area, for several months in 2016. Upon referral to a tertiary hospital in 2023, due to progressive cyst enlargement, liver magnetic resonance imaging revealed three large cysts with a water lily sign. Serum IgG against Echinococcus was positive by enzyme-linked immunosorbent assay. After diagnosis of echinococcosis, treatment with albendazole and puncture-aspiration-injection-reaspiration (PAIR) was performed.Microscopic and molecular analysis of cyst aspirates confirmed Echinococcus granulosus infection. Follow-up computed tomography demonstrated a reduction in cyst size, yet the emergence of a new right pleural effusion and consolidation in the left lower lobe of the lung necessitated the continuation of albendazole therapy. This case highlights the importance of thorough travel history, imaging findings, and the effectiveness of PAIR combined with albendazole in treating imported echinococcosis.
8.Insights Into JKMS Submissions and Medical Journal Publications in Korea
Jaehun JUNG ; Yumi JANG ; Munkhzul RADNAABAATAR ; Dae Sun JO ; Jong-Min KIM ; Jin-Hong YOO
Journal of Korean Medical Science 2025;40(1):e76-
We analyzed the publication and submission statuses of Korean medical journals from 2010 to 2024, amidst challenges impacting researchers. Data from 58 domestic journals identified through the 2023 JCR database were used to assess publication status, while data from the Journal of Korean Medical Science (JKMS) were utilized to examine submission status.The proportion of published original articles by domestic authors decreased by 3% in 2024 compared to 2023. Submissions to JKMS also decreased overall, except for slight increases in May and October 2024. In contrast, international submissions to JKMS showed consistent growth, surpassing the 15-year average, reflecting growing global interest. Addressing issues, including medical school admission policies and the lingering effects of coronavirus disease 2019, is vital to ensure a sustainable and thriving medical research environment in Korea.
9.Dementia Overdiagnosis in Younger, Higher Educated Individuals Based on MMSE Alone: Analysis Using Deep Learning Technology
Hye-Geum KIM ; Dai-Seg BAI ; Bon-Hoon KOO ; Eun-Jin CHEON ; Seokho YUN ; So Hye JO ; Byoungyoung GU
Journal of Korean Medical Science 2025;40(9):e20-
Background:
Dementia is a multifaceted disorder that affects cognitive function, necessitating accurate diagnosis for effective management and treatment. Although the Mini-Mental State Examination (MMSE) is widely used to assess cognitive impairment, its standalone efficacy is debated. This study examined the effectiveness of the MMSE alone versus in combination with other cognitive assessments in predicting dementia diagnosis, with the aim of refining the diagnostic accuracy for dementia.
Methods:
A total of 2,863 participants with subjective cognitive complaints who underwent comprehensive neuropsychological assessments were included. We developed two random forest models: one using only the MMSE and another incorporating additional cognitive tests.These models were evaluated based on their accuracy, precision, recall, F1-score, and area under the receiver operating characteristic curve (AUC) on a 70:30 training-to-testing split.
Results:
The MMSE-alone model predicted dementia with an accuracy of 86% and AUC of 0.872. The expanded model demonstrated increased accuracy (88%) and an AUC of 0.934.Notably, 17.46% of the cases were reclassified from dementia to non-dementia category upon including additional tests. Higher educational level and younger age were associated with these shifts.
Conclusion
The findings suggest that although the MMSE is a valuable screening tool, it should not be used in isolation to determine dementia severity. The addition of diverse cognitive assessments can significantly enhance diagnostic precision, particularly in younger and more educated populations. Future diagnostic protocols should integrate multifaceted cognitive evaluations to reflect the complexity of dementia accurately.
10.The Incidence of Occult Malignancy in Contralateral Risk Reducing Mastectomy Among Affected Breast Cancer Gene Mutation Carriers in South Korea
Cho Eun LEE ; Dong Seung SHIN ; Ki Jo KIM ; Seok Jin NAM ; Seok Won KIM ; Jonghan YU ; Byung Joo CHAE ; Se Kyung LEE ; Jai Min RYU ; Goo-Hyun MUN ; Jai-Kyong PYON ; Byung-Joon JEON ; Kyongje WOO ; Jeong Eon LEE
Journal of Breast Cancer 2025;28(1):1-10
Purpose:
Breast cancer gene (BRCA) mutation is a well-known risk factor for breast cancer, and clinical interest in prophylactic mastectomy has increased in recent years.We investigated patients who were BRCA mutation carriers and underwent contralateral risk-reducing mastectomy (RRM), focusing on the incidence of occult malignancy after contralateral RRM.
Methods:
Prospectively collected data of patients with breast cancer treated at a single institution were retrospectively reviewed. Patients who underwent RRM with BRCA mutation who underwent RRM between January 2010 and November 2023 were included in this study.Among patients who underwent contralateral RRM, those with a primary cancer diagnosis were included, and those with occult malignancy on the contralateral RRM side were reviewed additionally. The demographics and pathologies of both primary breast cancer and occult malignancies were evaluated.
Results:
In our institution, 925 patients were identified as BRCA mutation carriers, and 320 patients underwent contralateral RRM along with primary breast cancer surgery. BRCA2 mutation occurred more frequently (54.8%) in the overall BRCA mutation cohort. Furthermore, we reviewed 320 patients diagnosed with breast cancer and detected as BRCA mutation carriers who underwent contralateral RRM; high proportion of them were BRCA1 mutation carriers.Interestingly, we found a low incidence of only seven patients (2.2%) with occult malignancy on contralateral RRM side, which is different from that reported in other nations.
Conclusion
The incidence of occult malignancy in the contralateral breast of breast cancer patients with breast cancer with BRCA mutation is significantly low, and may be influenced by several factors. Increased utilization of screening and advancements in diagnostic technologies in South Korea have reduced the chance of occult malignancy in RRM, and a variety of pathologic examination methods may affect the rate of incidence.

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