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.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.
3.Functional Near-Infrared Spectroscopy Analysis of the Cognitive Functions of Elderly Patients With Hearing Loss
Seung Jae LEE ; Jiwon CHOI ; Hyun Bok SONG ; Jeong-Sug KYONG ; Sang-Yeon LEE ; Jun Ho LEE
Journal of Audiology & Otology 2025;29(1):38-48
Background and Objectives:
Age-related hearing loss is a modifiable risk factor for mild cognitive impairment (MCI); however, the potential mechanisms linking these conditions remain unclear. Therefore, in this study, we analyzed the cognitive function profiles of elderly patients with hearing loss via functional near-infrared spectroscopy (fNIRS) to determine the cortical activity differences between patients at risk of MCI and those with normal cognition.
Materials and Methods:
Sixty-three elderly patients with bilateral, moderate, or severe hearing loss were prospectively recruited for this study. Their demographic information was obtained, and audiological evaluations and cognitive function tests were performed. Various instruments were used to assess the cognitive and depression domains. Additionally, fNIRS was used to image the brains of the normal group and group at risk of MCI.
Results:
fNIRS analysis of individual cognitive task data revealed that the normal group exhibited significantly higher oxygenated hemoglobin (HbO2) levels in all cognitive function tasks, except the Stroop color and word test, than the group at risk of MCI. Detailed comparisons of the Brodmann areas revealed that, compared to the group at risk of MCI, normal group exhibited significantly higher HbO2 levels in the right and left dorsolateral prefrontal cortices, ventrolateral prefrontal cortex, frontopolar cortex, and orbitofrontal cortex in the J1 task, right ventrolateral prefrontal cortex in the J2 task, and right orbitofrontal cortex in the J6 task.
Conclusions
Measurement of fNIRS signals in the frontal lobes revealed different HbO2 signals between the normal group and group at risk of MCI during minimal hearing loss. Future studies should explore the causal link between hearing loss and cognitive impairment by analyzing the changes in cognitive function after auditory rehabilitation.
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.Factors influencing satisfaction with medical services in medically underserved populations: an analytical cross-sectional study at a free medical clinic in the Republic of Korea
Joo Hyun KIM ; Yeon Jeong HEO ; Jae Bok KWAK ; Samil PARK ; Curie AHN ; So Hee AHN ; Bumjo OH ; Jung Sik LEE ; Jun Hyun LEE ; Ho Young LEE
Osong Public Health and Research Perspectives 2025;16(2):181-191
Objectives:
This study aimed to explore factors influencing satisfaction with medical services among medically underserved populations at the free medical clinic, providing data to improve free medical services for these populations.
Methods:
We employed a descriptive correlational study design involving 112 individuals (aged 19 years and older) from medically underserved populations who visited the clinic. Data were collected through face-to-face surveys from September to October 2023, and statistical analyses (t-tests, analysis of variance, Pearson correlation, and hierarchical multiple regression) were used to identify key predictors of satisfaction.
Results:
Perceived support from healthcare providers emerged as the strongest predictor ofsatisfaction with medical services, demonstrating a significant positive association. While socialsupport was positively correlated with perceived support from healthcare providers, it did not independently predict satisfaction.
Conclusion
These findings underscore the importance of healthcare provider and social supportin increasing satisfaction with medical services among medically underserved populations.Developing tailored healthcare programs and specialized healthcare provider training are essential strategies to improve healthcare access and outcomes for these vulnerable groups.
6.High-Dose Rifampicin for 3 Months after Culture Conversion for Drug-Susceptible Pulmonary Tuberculosis
Nakwon KWAK ; Joong-Yub KIM ; Hyung-Jun KIM ; Byoung-Soo KWON ; Jae Ho LEE ; Jeongha MOK ; Yong-Soo KWON ; Young Ae KANG ; Youngmok PARK ; Ji Yeon LEE ; Doosoo JEON ; Jung-Kyu LEE ; Jeong Seong YANG ; Jake WHANG ; Kyung Jong KIM ; Young Ran KIM ; Minkyoung CHEON ; Jiwon PARK ; Seokyung HAHN ; Jae-Joon YIM
Tuberculosis and Respiratory Diseases 2025;88(1):170-180
Background:
This study aimed to determine whether a shorter high-dose rifampicin regimen is non-inferior to the standard 6-month tuberculosis regimen.
Methods:
This multicenter, randomized, open-label, non-inferiority trial enrolled participants with respiratory specimen positivity by Xpert MTB/RIF assay or Mycobacterium tuberculosis culture without rifampicin-resistance. Participants were randomized at 1:1 to the investigational or control group. The investigational group received high-dose rifampicin (30 mg/kg/day), isoniazid, and pyrazinamide until culture conversion, followed by high-dose rifampicin and isoniazid for 12 weeks. The control group received the standard 6-month regimen. The primary outcome was the rate of unfavorable outcomes at 18 months post-randomization. The non-inferiority margin was set at <6% difference in unfavorable outcomes rates. The study is registered with ClinicalTrials.gov (NCT04485156)
Results:
Between 4 November 2020 and 3 January 2022, 76 participants were enrolled. Of these, 58 were included in the modified intention-to-treat analysis. Unfavorable outcomes occurred in 10 (31.3%) of 32 in the control group and 10 (38.5%) of 26 in the investigational group. The difference was 7.2% (95% confidence interval, ∞ to 31.9%), failing to prove non-inferiority. Serious adverse events and grade 3 or higher adverse events did not differ between the groups.
Conclusion
The shorter high-dose rifampicin regimen failed to demonstrate non-inferiority but had an acceptable safety profile.
7.Factors influencing satisfaction with medical services in medically underserved populations: an analytical cross-sectional study at a free medical clinic in the Republic of Korea
Joo Hyun KIM ; Yeon Jeong HEO ; Jae Bok KWAK ; Samil PARK ; Curie AHN ; So Hee AHN ; Bumjo OH ; Jung Sik LEE ; Jun Hyun LEE ; Ho Young LEE
Osong Public Health and Research Perspectives 2025;16(2):181-191
Objectives:
This study aimed to explore factors influencing satisfaction with medical services among medically underserved populations at the free medical clinic, providing data to improve free medical services for these populations.
Methods:
We employed a descriptive correlational study design involving 112 individuals (aged 19 years and older) from medically underserved populations who visited the clinic. Data were collected through face-to-face surveys from September to October 2023, and statistical analyses (t-tests, analysis of variance, Pearson correlation, and hierarchical multiple regression) were used to identify key predictors of satisfaction.
Results:
Perceived support from healthcare providers emerged as the strongest predictor ofsatisfaction with medical services, demonstrating a significant positive association. While socialsupport was positively correlated with perceived support from healthcare providers, it did not independently predict satisfaction.
Conclusion
These findings underscore the importance of healthcare provider and social supportin increasing satisfaction with medical services among medically underserved populations.Developing tailored healthcare programs and specialized healthcare provider training are essential strategies to improve healthcare access and outcomes for these vulnerable groups.
8.High-Dose Rifampicin for 3 Months after Culture Conversion for Drug-Susceptible Pulmonary Tuberculosis
Nakwon KWAK ; Joong-Yub KIM ; Hyung-Jun KIM ; Byoung-Soo KWON ; Jae Ho LEE ; Jeongha MOK ; Yong-Soo KWON ; Young Ae KANG ; Youngmok PARK ; Ji Yeon LEE ; Doosoo JEON ; Jung-Kyu LEE ; Jeong Seong YANG ; Jake WHANG ; Kyung Jong KIM ; Young Ran KIM ; Minkyoung CHEON ; Jiwon PARK ; Seokyung HAHN ; Jae-Joon YIM
Tuberculosis and Respiratory Diseases 2025;88(1):170-180
Background:
This study aimed to determine whether a shorter high-dose rifampicin regimen is non-inferior to the standard 6-month tuberculosis regimen.
Methods:
This multicenter, randomized, open-label, non-inferiority trial enrolled participants with respiratory specimen positivity by Xpert MTB/RIF assay or Mycobacterium tuberculosis culture without rifampicin-resistance. Participants were randomized at 1:1 to the investigational or control group. The investigational group received high-dose rifampicin (30 mg/kg/day), isoniazid, and pyrazinamide until culture conversion, followed by high-dose rifampicin and isoniazid for 12 weeks. The control group received the standard 6-month regimen. The primary outcome was the rate of unfavorable outcomes at 18 months post-randomization. The non-inferiority margin was set at <6% difference in unfavorable outcomes rates. The study is registered with ClinicalTrials.gov (NCT04485156)
Results:
Between 4 November 2020 and 3 January 2022, 76 participants were enrolled. Of these, 58 were included in the modified intention-to-treat analysis. Unfavorable outcomes occurred in 10 (31.3%) of 32 in the control group and 10 (38.5%) of 26 in the investigational group. The difference was 7.2% (95% confidence interval, ∞ to 31.9%), failing to prove non-inferiority. Serious adverse events and grade 3 or higher adverse events did not differ between the groups.
Conclusion
The shorter high-dose rifampicin regimen failed to demonstrate non-inferiority but had an acceptable safety profile.
9.Functional Near-Infrared Spectroscopy Analysis of the Cognitive Functions of Elderly Patients With Hearing Loss
Seung Jae LEE ; Jiwon CHOI ; Hyun Bok SONG ; Jeong-Sug KYONG ; Sang-Yeon LEE ; Jun Ho LEE
Journal of Audiology & Otology 2025;29(1):38-48
Background and Objectives:
Age-related hearing loss is a modifiable risk factor for mild cognitive impairment (MCI); however, the potential mechanisms linking these conditions remain unclear. Therefore, in this study, we analyzed the cognitive function profiles of elderly patients with hearing loss via functional near-infrared spectroscopy (fNIRS) to determine the cortical activity differences between patients at risk of MCI and those with normal cognition.
Materials and Methods:
Sixty-three elderly patients with bilateral, moderate, or severe hearing loss were prospectively recruited for this study. Their demographic information was obtained, and audiological evaluations and cognitive function tests were performed. Various instruments were used to assess the cognitive and depression domains. Additionally, fNIRS was used to image the brains of the normal group and group at risk of MCI.
Results:
fNIRS analysis of individual cognitive task data revealed that the normal group exhibited significantly higher oxygenated hemoglobin (HbO2) levels in all cognitive function tasks, except the Stroop color and word test, than the group at risk of MCI. Detailed comparisons of the Brodmann areas revealed that, compared to the group at risk of MCI, normal group exhibited significantly higher HbO2 levels in the right and left dorsolateral prefrontal cortices, ventrolateral prefrontal cortex, frontopolar cortex, and orbitofrontal cortex in the J1 task, right ventrolateral prefrontal cortex in the J2 task, and right orbitofrontal cortex in the J6 task.
Conclusions
Measurement of fNIRS signals in the frontal lobes revealed different HbO2 signals between the normal group and group at risk of MCI during minimal hearing loss. Future studies should explore the causal link between hearing loss and cognitive impairment by analyzing the changes in cognitive function after auditory rehabilitation.
10.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.

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