1.Pathogenesis of systemic sclerosis: an integrative review of recent advances
Journal of Rheumatic Diseases 2025;32(2):89-104
Systemic sclerosis (SSc), or scleroderma, is a complex autoimmune connective tissue disease characterized by autoimmunity, vasculopathy, and progressive organ fibrosis, leading to severe organ dysfunction. The disease begins with a vascular injury triggered by autoimmune responses and environmental factors against a backdrop of genetic predisposition. This injury impairs angiogenesis and vasculogenesis, resulting in capillary loss and arteriolar constriction, which promotes immune cell infiltration and sustained inflammation within affected tissues. These vascular anomalies cause severe complications, including pulmonary artery hypertension, scleroderma renal crisis, and skin ulcers. Chronic inflammation fosters persistent fibroblast activation, resulting in extensive fibrosis that defines SSc. This review synthesizes the latest research on pathogenesis of SSc, highlighting the shift from fundamental research to a precision therapeutic approach. It explores the potential of technologies like flow cytometry and singlecell RNA sequencing to investigate pathogenic cell subtypes. These platforms integrate transcriptomic, genomic, proteomic, and epigenomic data to uncover insights into the underlying mechanisms of SSc pathogenesis. This review advocates for a multidisciplinary, patient-centric approach that harnesses recent scientific advances, directing future SSc research toward personalized and precise interventions.
2.Pathogenesis of systemic sclerosis: an integrative review of recent advances
Journal of Rheumatic Diseases 2025;32(2):89-104
Systemic sclerosis (SSc), or scleroderma, is a complex autoimmune connective tissue disease characterized by autoimmunity, vasculopathy, and progressive organ fibrosis, leading to severe organ dysfunction. The disease begins with a vascular injury triggered by autoimmune responses and environmental factors against a backdrop of genetic predisposition. This injury impairs angiogenesis and vasculogenesis, resulting in capillary loss and arteriolar constriction, which promotes immune cell infiltration and sustained inflammation within affected tissues. These vascular anomalies cause severe complications, including pulmonary artery hypertension, scleroderma renal crisis, and skin ulcers. Chronic inflammation fosters persistent fibroblast activation, resulting in extensive fibrosis that defines SSc. This review synthesizes the latest research on pathogenesis of SSc, highlighting the shift from fundamental research to a precision therapeutic approach. It explores the potential of technologies like flow cytometry and singlecell RNA sequencing to investigate pathogenic cell subtypes. These platforms integrate transcriptomic, genomic, proteomic, and epigenomic data to uncover insights into the underlying mechanisms of SSc pathogenesis. This review advocates for a multidisciplinary, patient-centric approach that harnesses recent scientific advances, directing future SSc research toward personalized and precise interventions.
3.Pathogenesis of systemic sclerosis: an integrative review of recent advances
Journal of Rheumatic Diseases 2025;32(2):89-104
Systemic sclerosis (SSc), or scleroderma, is a complex autoimmune connective tissue disease characterized by autoimmunity, vasculopathy, and progressive organ fibrosis, leading to severe organ dysfunction. The disease begins with a vascular injury triggered by autoimmune responses and environmental factors against a backdrop of genetic predisposition. This injury impairs angiogenesis and vasculogenesis, resulting in capillary loss and arteriolar constriction, which promotes immune cell infiltration and sustained inflammation within affected tissues. These vascular anomalies cause severe complications, including pulmonary artery hypertension, scleroderma renal crisis, and skin ulcers. Chronic inflammation fosters persistent fibroblast activation, resulting in extensive fibrosis that defines SSc. This review synthesizes the latest research on pathogenesis of SSc, highlighting the shift from fundamental research to a precision therapeutic approach. It explores the potential of technologies like flow cytometry and singlecell RNA sequencing to investigate pathogenic cell subtypes. These platforms integrate transcriptomic, genomic, proteomic, and epigenomic data to uncover insights into the underlying mechanisms of SSc pathogenesis. This review advocates for a multidisciplinary, patient-centric approach that harnesses recent scientific advances, directing future SSc research toward personalized and precise interventions.
4.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.
5.Contemporary diagnosis and treatment of valvular heart disease in Korea: a nationwide hospital‑based registry study
Hyung Yoon KIM ; Hee Jeong LEE ; In‑Cheol KIM ; Jung‑Woo SON ; Jun‑Bean PARK ; Sahmin LEE ; Eun Kyoung KIM ; Seong‑Mi PARK ; Woo‑Baek CHUNG ; Jung Sun CHO ; Jin‑Sun PARK ; Jeong‑Sook SEO ; Sun Hwa LEE ; Byung Joo SUN ; Chi Young SHIM ; Hyungseop KIM ; Kye Hun KIM ; Duk‑Hyun KANG ; Jong‑Won HA ;
Journal of Cardiovascular Imaging 2024;32(1):37-
Background:
This study was designed to determine the current status of diagnosis and treatment of valvular heart disease (VHD) in Korea.
Methods:
A nationwide registry study was conducted in 45 hospitals in Korea involving adult patients with at least moderate VHD as determined by echocardiography carried out between September and October of 2019. Of a total of 4,094 patients with at least moderate VHD, 1,482 had severe VHD (age, 71.3 ± 13.5 years; 49.1% male). Echocar‑ diographic data used for the diagnosis of each case of VHD were analyzed. Experts from each center determined the diagnosis and treatment strategy for VHD based on current guidelines and institutional policy. The clinical out‑ come was in-hospital mortality.
Results:
Each valve underwent surgical or transcatheter intervention in 19.3% cases of severe mitral stenosis, 31.4% cases of severe primary mitral regurgitation (MR), 7.5% cases of severe secondary MR, 43.7% cases of severe aortic stenosis, 27.5% cases of severe aortic regurgitation, and 7.2% cases of severe tricuspid regurgitation. The overall inhospital mortality rate for patients with severe VHD was 5.4%, and for secondary severe MR and severe tricuspid regur‑ gitation, the rates were 9.0% and 7.5%, respectively, indicating a poor prognosis. In-hospital mortality occurred in 73 of the 1,244 patients (5.9%) who received conservative treatment and in 18 of the 455 patients (4.0%) who received a surgical or transcatheter intervention, which was significantly lower in the intervention group (P = 0.037).
Conclusions
This study provides important information about the current status of VHD diagnosis and treatment through a nationwide registry in Korea and helps to define future changes.
6.Contemporary diagnosis and treatment of valvular heart disease in Korea: a nationwide hospital‑based registry study
Hyung Yoon KIM ; Hee Jeong LEE ; In‑Cheol KIM ; Jung‑Woo SON ; Jun‑Bean PARK ; Sahmin LEE ; Eun Kyoung KIM ; Seong‑Mi PARK ; Woo‑Baek CHUNG ; Jung Sun CHO ; Jin‑Sun PARK ; Jeong‑Sook SEO ; Sun Hwa LEE ; Byung Joo SUN ; Chi Young SHIM ; Hyungseop KIM ; Kye Hun KIM ; Duk‑Hyun KANG ; Jong‑Won HA ;
Journal of Cardiovascular Imaging 2024;32(1):37-
Background:
This study was designed to determine the current status of diagnosis and treatment of valvular heart disease (VHD) in Korea.
Methods:
A nationwide registry study was conducted in 45 hospitals in Korea involving adult patients with at least moderate VHD as determined by echocardiography carried out between September and October of 2019. Of a total of 4,094 patients with at least moderate VHD, 1,482 had severe VHD (age, 71.3 ± 13.5 years; 49.1% male). Echocar‑ diographic data used for the diagnosis of each case of VHD were analyzed. Experts from each center determined the diagnosis and treatment strategy for VHD based on current guidelines and institutional policy. The clinical out‑ come was in-hospital mortality.
Results:
Each valve underwent surgical or transcatheter intervention in 19.3% cases of severe mitral stenosis, 31.4% cases of severe primary mitral regurgitation (MR), 7.5% cases of severe secondary MR, 43.7% cases of severe aortic stenosis, 27.5% cases of severe aortic regurgitation, and 7.2% cases of severe tricuspid regurgitation. The overall inhospital mortality rate for patients with severe VHD was 5.4%, and for secondary severe MR and severe tricuspid regur‑ gitation, the rates were 9.0% and 7.5%, respectively, indicating a poor prognosis. In-hospital mortality occurred in 73 of the 1,244 patients (5.9%) who received conservative treatment and in 18 of the 455 patients (4.0%) who received a surgical or transcatheter intervention, which was significantly lower in the intervention group (P = 0.037).
Conclusions
This study provides important information about the current status of VHD diagnosis and treatment through a nationwide registry in Korea and helps to define future changes.
7.Contemporary diagnosis and treatment of valvular heart disease in Korea: a nationwide hospital‑based registry study
Hyung Yoon KIM ; Hee Jeong LEE ; In‑Cheol KIM ; Jung‑Woo SON ; Jun‑Bean PARK ; Sahmin LEE ; Eun Kyoung KIM ; Seong‑Mi PARK ; Woo‑Baek CHUNG ; Jung Sun CHO ; Jin‑Sun PARK ; Jeong‑Sook SEO ; Sun Hwa LEE ; Byung Joo SUN ; Chi Young SHIM ; Hyungseop KIM ; Kye Hun KIM ; Duk‑Hyun KANG ; Jong‑Won HA ;
Journal of Cardiovascular Imaging 2024;32(1):37-
Background:
This study was designed to determine the current status of diagnosis and treatment of valvular heart disease (VHD) in Korea.
Methods:
A nationwide registry study was conducted in 45 hospitals in Korea involving adult patients with at least moderate VHD as determined by echocardiography carried out between September and October of 2019. Of a total of 4,094 patients with at least moderate VHD, 1,482 had severe VHD (age, 71.3 ± 13.5 years; 49.1% male). Echocar‑ diographic data used for the diagnosis of each case of VHD were analyzed. Experts from each center determined the diagnosis and treatment strategy for VHD based on current guidelines and institutional policy. The clinical out‑ come was in-hospital mortality.
Results:
Each valve underwent surgical or transcatheter intervention in 19.3% cases of severe mitral stenosis, 31.4% cases of severe primary mitral regurgitation (MR), 7.5% cases of severe secondary MR, 43.7% cases of severe aortic stenosis, 27.5% cases of severe aortic regurgitation, and 7.2% cases of severe tricuspid regurgitation. The overall inhospital mortality rate for patients with severe VHD was 5.4%, and for secondary severe MR and severe tricuspid regur‑ gitation, the rates were 9.0% and 7.5%, respectively, indicating a poor prognosis. In-hospital mortality occurred in 73 of the 1,244 patients (5.9%) who received conservative treatment and in 18 of the 455 patients (4.0%) who received a surgical or transcatheter intervention, which was significantly lower in the intervention group (P = 0.037).
Conclusions
This study provides important information about the current status of VHD diagnosis and treatment through a nationwide registry in Korea and helps to define future changes.
8.Financial Benefits of Renal Dose-Adjusted Dipeptidyl Peptidase-4 Inhibitors for Patients with Type 2 Diabetes and Chronic Kidney Disease
Hun Jee CHOE ; Yeh-Hee KO ; Sun Joon MOON ; Chang Ho AHN ; Kyoung Hwa HA ; Hyeongsuk LEE ; Jae Hyun BAE ; Hyung Joon JOO ; Hyejin LEE ; Jang Wook SON ; Dae Jung KIM ; Sin Gon KIM ; Kwangsoo KIM ; Young Min CHO
Endocrinology and Metabolism 2024;39(4):622-631
Background:
Dipeptidyl peptidase-4 (DPP4) inhibitors are frequently prescribed for patients with type 2 diabetes; however, their cost can pose a significant barrier for those with impaired kidney function. This study aimed to estimate the economic benefits of substituting non-renal dose-adjusted (NRDA) DPP4 inhibitors with renal dose-adjusted (RDA) DPP4 inhibitors in patients with both impaired kidney function and type 2 diabetes.
Methods:
This retrospective cohort study was conducted from January 1, 2012 to December 31, 2018, using data obtained from common data models of five medical centers in Korea. Model 1 applied the prescription pattern of participants with preserved kidney function to those with impaired kidney function. In contrast, model 2 replaced all NRDA DPP4 inhibitors with RDA DPP4 inhibitors, adjusting the doses of RDA DPP4 inhibitors based on individual kidney function. The primary outcome was the cost difference between the two models.
Results:
In total, 67,964,996 prescription records were analyzed. NRDA DPP4 inhibitors were more frequently prescribed to patients with impaired kidney function than in those with preserved kidney function (25.7%, 51.3%, 64.3%, and 71.6% in patients with estimated glomerular filtration rates [eGFRs] of ≥60, <60, <45, and <30 mL/min/1.73 m2, respectively). When model 1 was applied, the cost savings per year were 7.6% for eGFR <60 mL/min/1.73 m2 and 30.4% for eGFR <30 mL/min/1.73 m2. According to model 2, 15.4% to 51.2% per year could be saved depending on kidney impairment severity.
Conclusion
Adjusting the doses of RDA DPP4 inhibitors based on individual kidney function could alleviate the economic burden associated with medical expenses.
9.Prevalence and Associated Factors of Depression and Anxiety Among Healthcare Workers During the Coronavirus Disease 2019 Pandemic:A Nationwide Study in Korea
Shinwon LEE ; Soyoon HWANG ; Ki Tae KWON ; EunKyung NAM ; Un Sun CHUNG ; Shin-Woo KIM ; Hyun-Ha CHANG ; Yoonjung KIM ; Sohyun BAE ; Ji-Yeon SHIN ; Sang-geun BAE ; Hyun Wook RYOO ; Juhwan JEONG ; NamHee OH ; So Hee LEE ; Yeonjae KIM ; Chang Kyung KANG ; Hye Yoon PARK ; Jiho PARK ; Se Yoon PARK ; Bongyoung KIM ; Hae Suk CHEONG ; Ji Woong SON ; Su Jin LIM ; Seongcheol YUN ; Won Sup OH ; Kyung-Hwa PARK ; Ju-Yeon LEE ; Sang Taek HEO ; Ji-yeon LEE
Journal of Korean Medical Science 2024;39(13):e120-
Background:
A healthcare system’s collapse due to a pandemic, such as the coronavirus disease 2019 (COVID-19), can expose healthcare workers (HCWs) to various mental health problems. This study aimed to investigate the impact of the COVID-19 pandemic on the depression and anxiety of HCWs.
Methods:
A nationwide questionnaire-based survey was conducted on HCWs who worked in healthcare facilities and public health centers in Korea in December 2020. Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7) were used to measure depression and anxiety. To investigate factors associated with depression and anxiety, stepwise multiple logistic regression analysis was performed.
Results:
A total of 1,425 participating HCWs were included. The mean depression score (PHQ-9) of HCWs before and after COVID-19 increased from 2.37 to 5.39, and the mean anxiety score (GAD-7) increased from 1.41 to 3.41. The proportion of HCWs with moderate to severe depression (PHQ-9 ≥ 10) increased from 3.8% before COVID-19 to 19.5% after COVID-19, whereas that of HCWs with moderate to severe anxiety (GAD-7 ≥ 10) increased from 2.0% to 10.1%. In our study, insomnia, chronic fatigue symptoms and physical symptoms after COVID-19, anxiety score (GAD-7) after COVID-19, living alone, and exhaustion were positively correlated with depression. Furthermore, post-traumatic stress symptoms, stress score (Global Assessment of Recent Stress), depression score (PHQ-9) after COVID-19, and exhaustion were positively correlated with anxiety.
Conclusion
In Korea, during the COVID-19 pandemic, HCWs commonly suffered from mental health problems, including depression and anxiety. Regularly checking the physical and mental health problems of HCWs during the COVID-19 pandemic is crucial, and social support and strategy are needed to reduce the heavy workload and psychological distress of HCWs.
10.Shifts in Clinical Characteristics, Treatment, and Outcome for Rheumatic Mitral Stenosis: Insights From a 20-Year Multicentre Registry Study in Korea
Hee Jeong LEE ; Iksung CHO ; Dae-Young KIM ; Jang-Won SON ; Kang-Un CHOI ; Seonhwa LEE ; In-Cheol KIM ; Kyu-Yong KO ; Kyung Eun HA ; Seo-Yeon GWAK ; Kyu KIM ; Jiwon SEO ; Hojeong KIM ; Chi Young SHIM ; Jong-Won HA ; Hyungseop KIM ; Geu-Ru HONG ; Jagat NARULA
Journal of Korean Medical Science 2024;39(17):e152-
Background:
The rapid economic development of South Korea provides a unique model to study changes in the clinical characteristics, treatment approaches, and clinical outcomes of patients with rheumatic mitral stenosis (MS) relative to socioeconomic growth.
Methods:
From the Multicenter mitrAl STEnosis with Rheumatic etiology (MASTER) registry, 2,337 patients diagnosed with moderate or severe rheumatic MS between January 2001 and December 2020 were analyzed. Patients were grouped into consecutive 5-year intervals based on their year of diagnosis. Clinical characteristics, echocardiographic data, and clinical outcomes were assessed.
Results:
Over 20 years, the severity of mitral stenosis increased from 79.1% to 90.2%; similarly, the average age at diagnosis increased from 54.3 to 63.0 years (all P < 0.001). Comorbidities such as hypertension and atrial fibrillation increased (6.3% to 29.5% and 41.4% to 46.9%, respectively; all P for trend < 0.05). The rate of mitral intervention within five years after diagnosis increased from 31.2% to 47.4% (P for trend < 0.001). However, clinical outcomes of rheumatic mitral stenosis deteriorated over time in the composite outcomes (log-rank test, P < 0.001). Conversely, the incidence of stroke remained stable (60.6–73.7%; P < 0.001), which might be attributed to the increased use of anticoagulation therapy.
Conclusion
This study observed an increase in patient age, comorbidities, and valve disease severity as the country transitioned from a developing to developed status. Despite a rise in mitral valve interventions, clinical outcomes deteriorated over 20 years, highlighting the need for modified treatment approaches to improve patient outcomes.

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