1.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
2.Comparing Stability, Gait, and Functional Score after 40-mm Dual-Mobility Hip Arthroplasty to 36-mm Head Hip Arthroplasty in Elderly Hip Fracture Patients
Yonghan CHA ; Sang-Yeob LEE ; Ji-Ho BAE ; Yang Jae KANG ; Ji-Hoon BAEK ; Joon Soon KANG ; Chan Ho PARK ; Shinjune KIM ; Jun-Il YOO
Clinics in Orthopedic Surgery 2025;17(1):62-70
Background:
This study aimed to compare the intraoperative stability and early clinical outcomes of 40-mm diameter dual mobility (DM)-total hip arthroplasty (THA) with 36-mm ceramic head (large head) THA in active elderly patients with hip fractures.
Methods:
A prospective randomized controlled trial was conducted from May 2022 to December 2022. Inclusion criteria were as follows: age ≥ 60 years, displaced femoral neck fracture, Koval grade 1 or 2, planned 54-mm acetabular component, and over 1-year follow-up. Intraoperative stability tests were performed on all patients (internal rotation at 45°, 60°, and 90° of hip fracture). Functional outcomes (Harris Hip Score and University of California, Los Angeles [UCLA] Score) were evaluated at 6 weeks and 3 months postoperatively. Gait analysis using artificial intelligence (AI) techniques was conducted at 3 months postoperatively.
Results:
The study included 36 DM-THA patients (mean age, 69.6 ± 2.2 years; 44% women) and 37 large head THA patients (mean age, 69.6 ± 1.2 years; 64% women). No statistically significant differences were observed in functional outcomes and hip range of motion between the 2 groups. However, there was a significant difference in the gait speed and stance-swing phase of the large head THA group and the DM-THA group: the DM-THA group demonstrated superior gait speed (2.85 ± 0.83 kph vs. 2.04 ± 1.04 kph, p = 0.003) and higher stance phase ratios (operated side: 63.57% ± 3.82% vs. 48.19% ± 5.50%, p < 0.001; opposite side: 62.77% ± 2.27% vs. 49.93% ± 6.94%, p < 0.001). In the stability test at 90° of hip flexion, the DM-THA group had a measurement of 48.40° ± 5.17°, while the large head THA group had a measurement of 30.94° ± 2.98° (p = 0.012). Despite the lack of statistical significance, the intraoperative stability test showed the dislocation angle was notably different between the groups in the hip flexion position of 60° (51.60° ± 6.09° in the DM-THA group and 40.00° ± 2.80° in the large head THA group, p = 0.072).
Conclusions
Superior results were observed in the intraoperative stability test and early recovery of gait after DM-THA compared to large head THA. We believe that DM-THA can be a useful surgical option for THA in elderly patients with hip fractures.
3.Comparing 1-L and 2-L Polyethylene Glycol with Ascorbic Acid for Small Bowel Capsule Endoscopy: A Randomized Controlled Trial
Chang Kyo OH ; Sang Pyo LEE ; Jae Gon LEE ; Young Joo YANG ; Seung In SEO ; Chang Seok BANG ; Yu Jin KIM ; Woon Geon SHIN ; Jin Bae KIM ; Hyun Joo JANG ; Sea Hyub KAE ; Gwang Ho BAIK ; Hallym Gastrointestinal Study Group
Gut and Liver 2025;19(1):87-94
Background/Aims:
Small bowel capsule endoscopy (SBCE) has become the standard for initial evaluation in the diagnosis of small bowel lesions. Although optimal visualization of the mucosa is important, patients experience difficulty in consuming a large volume of bowel preparation agents. This study aimed to compare the efficacy and safety of 1-L polyethylene glycol (PEG) with ascorbic acid (AA) and 2-L PEG with AA.
Methods:
In this prospective, multicenter, non-inferiority study, patients who received SBCE were randomly assigned to consume 1-L PEG with AA or 2-L PEG with AA for small bowel preparation. The primary outcome was adequate small bowel visibility quality (SBVQ). The secondary outcomes included diagnostic yield, cecal complete rate, and adverse events.
Results:
One hundred and forty patients were enrolled in this study, 70 patients per group. In the per-protocol analysis, there were no significant differences in the adequate SBVQ rate (94.0% vs 94.3%; risk difference, –0.3; 95% confidence interval, –8.1 to 7.6; p=1.000), diagnostic yield rate (49.3% vs 48.6%, p=0.936), or cecal complete rate (88.1% vs 92.9%, p=0.338) between the 1-L PEG with AA group and 2-L PEG with AA group. The incidence of adverse events did not differ significantly between the groups (12.9% vs 11.9%, p=0.871).
Conclusions
One liter-PEG with AA is not inferior to 2-L PEG with AA in terms of adequate SBVQ for SBCE. One liter-PEG with AA can be recommended as the standard method for bowel cleansing for SBCE.
4.Effect of Helicobacter pylori Eradication on Metabolic Parameters and Body Composition including Skeletal Muscle Mass: A Matched Case-Control Study
Suh Eun BAE ; Kee Don CHOI ; Jaewon CHOE ; Min Jung LEE ; Seonok KIM ; Ji Young CHOI ; Hana PARK ; Jaeil KIM ; Hye Won PARK ; Hye-Sook CHANG ; Hee Kyong NA ; Ji Yong AHN ; Kee Wook JUNG ; Jeong Hoon LEE ; Do Hoon KIM ; Ho June SONG ; Gin Hyug LEE ; Hwoon-Yong JUNG
Gut and Liver 2025;19(3):346-354
Background/Aims:
Findings on the impact of Helicobacter pylori eradication on metabolic parameters are inconsistent. This study aimed to evaluate the effects of H. pylori eradication on metabolic parameters and body composition, including body fat mass and skeletal muscle mass.
Methods:
We retrospectively reviewed the data of asymptomatic patients who underwent health screenings, including bioelectrical impedance analysis, before and after H. pylori eradication between 2005 and 2021. After matching individuals based on key factors, we compared lipid profiles, metabolic parameters, and body composition between 823 patients from the eradicated group and 823 patients from the non-eradicated groups.
Results:
Blood pressure, erythrocyte sedimentation rate, and glycated hemoglobin values were significantly lower in the eradicated group than in the non-eradicated group. However, changes in body mass index (BMI), body fat mass, appendicular skeletal muscle mass (ASM), waist circumference, and lipid profiles were not significantly different between the two groups. In a subgroup analysis of individuals aged >45 years, blood pressure, erythrocyte sedimentation rate, and glycated hemoglobin changes were significantly lower in the eradicated group than in the noneradicated group. BMI values were significantly higher in the eradicated group than in the noneradicated group; however, no significant differences were observed between the two groups regarding changes in body weight, body fat mass, ASM, or waist circumference. Total cholesterol and low-density lipoprotein cholesterol levels were significantly lower in the eradicated group than in non-eradicated group.
Conclusions
H. pylori eradication significantly reduced blood pressure, glucose levels, and systemic inflammation and improved lipid profiles in patients aged >45 years. BMI, body fat mass, ASM, and waist circumference did not significantly differ between patients in the eradicated group and those in the non-eradicated group.
5.Impact of HER2-Low Status on Pathologic Complete Response and Survival Outcome Among Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy
Young Joo LEE ; Tae-Kyung YOO ; Sae Byul LEE ; Il Yong CHUNG ; Hee Jeong KIM ; Beom Seok KO ; Jong Won LEE ; Byung Ho SON ; Sei Hyun AHN ; Hyehyun JEONG ; Jae Ho JUNG ; Jin-Hee AHN ; Kyung Hae JUNG ; Sung-Bae KIM ; Hee Jin LEE ; Gyungyub GONG ; Jisun KIM
Journal of Breast Cancer 2025;28(1):11-22
Purpose:
This study analyzed the pathological complete response (pCR) rates, long-term outcomes, and biological features of human epidermal growth factor receptor 2 (HER2)-zero, HER2-low, and HER2-positive breast cancer patients undergoing neoadjuvant treatment.
Methods:
This single-center study included 1,667 patients who underwent neoadjuvant chemotherapy from 2008 to 2014. Patients were categorized by HER2 status, and their clinicopathological characteristics, chemotherapy responses, and recurrence-free survival (RFS) rates were analyzed.
Results:
Patients with HER2-low tumors were more likely to be older (p = 0.081), have a lower histological grade (p < 0.001), and have hormone receptor (HorR)-positive tumors (p < 0.001). The HER2-positive group exhibited the highest pCR rate (23.3%), followed by the HER2-zero (15.5%) and HER2-low (10.9%) groups. However, the pCR rate did not differ between HER2-low and HER2-zero tumors in the HorR-positive or HorR-negative subgroups.The 5-year RFS rates increased in the following order: HER2-low, HER2-positive, and HER2-zero (80.0%, 77.5%, and 74.5%, respectively) (log-rank test p = 0.017). A significant survival difference between patients with HER2-low and HER2-zero tumors was only identified in HorR-negative tumors (5-year RFS for HER2-low, 74.5% vs. HER2-zero, 66.0%; log-rank test p-value = 0.04). Multivariate survival analysis revealed that achieving a pCR was the most significant factor associated with improved survival (hazard ratio [HR], 4.279; p < 0.001).Compared with HER2-zero, the HRs for HER2-low and HER2-positive tumors were 0.787 (p = 0.042) and 0.728 (p = 0.005), respectively. After excluding patients who received HER2-targeted therapy, patients with HER2-low tumors exhibited better RFS than those with HER2-zero (HR 0.784, p = 0.04), whereas those with HER2-positive tumors exhibited no significant difference compared with those with HER2-low tumors (HR, 0.975; p = 0.953).
Conclusion
Patients with HER2-low tumors had no significant difference in pCR rate compared to HER2-zero but showed better survival, especially in HorR-negative tumors.Further investigation into biological differences is warranted.
6.Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort
Su Ho BAE ; Seung Woo CHOI ; Chang Ki YOON ; Un Chul PARK ; Kyu Hyung PARK ; Eun Kyoung LEE
Korean Journal of Ophthalmology 2025;39(2):157-169
Purpose:
To investigate the clinical characteristics of South Korean patients with pericentral retinitis pigmentosa (RP) and to identify clinical biomarkers associated with rapid visual acuity decline based on baseline factors.
Methods:
This retrospective study included 59 eyes of 31 patients diagnosed with pericentral RP. Comprehensive ophthalmological examinations and genetic sequencing were conducted to assess the baseline characteristics. For biomarker analysis, eyes were categorized into two groups based on the annual rate of change in visual acuity. The clinical findings of the two groups were evaluated to identify the biomarkers associated with rapid loss of visual acuity.
Results:
Patients with pericentral RP in this study exhibited a mean best-corrected visual acuity of 0.17 ± 0.23 in logarithm of the minimum angle of resolution. The visual field test showed annular or semicircular scotoma with relatively preserved periphery and 27 eyes (45.8%) exhibited no macular complications in optical coherence tomography. Genetic analysis identified genes associated with previous typical and pericentral RP studies but also highlighted that many genetic causes of pericentral RP remain unidentified. Of the 55 eyes for which the rate of visual acuity change could be estimated, 18 exhibited an annual decline of ≥10%, whereas 37 showed an annual decline of <10%. Male sex and prolonged b-wave latency on dark-adapted 0.01 electroretinogram correlated with rapid visual acuity decline in the multivariate analysis.
Conclusions
South Korean patients with pericentral RP exhibited a milder phenotype compared to typical RP patients reported in previous studies. Genetic analysis revealed heterogeneity, with mutations in some genes commonly associated with milder forms of RP. Male sex and prolonged b-wave latency on dark-adapted 0.01 electroretinogram were significant biomarkers for predicting rapid visual acuity decline. Monitoring initial b-wave latency is important for predicting visual decline, particularly in male patients with pericentral RP.
7.Transforaminal Endoscopic Thoracic Discectomy Is More Cost-Effective Than Microdiscectomy for Symptomatic Disc Herniations
Junseok BAE ; Pratyush SHAHI ; Sang-Ho LEE ; Han-Joong KEUM ; Ju-Wan SEOK ; Yong-Soo CHOI ; Jin-Sung KIM
Neurospine 2025;22(1):118-127
Objective:
To analyze costs and cost-effectiveness of transforaminal endoscopic thoracic discectomy (TETD) for the treatment of symptomatic thoracic disc herniation (TDH) and compare it with open microdiscectomy (MD).
Methods:
This retrospective cohort study included patients who underwent TETD or MD for symptomatic TDH and had a minimum follow-up of 1 year. Cost analysis included direct costs (primary and secondary hospital costs), indirect costs (lost wages due to work absence), total costs (direct + indirect), and cost-effectiveness (cost per quality-adjusted life year [QALY] and incremental cost-effectiveness ratio [ICER]). Clinical outcomes included patient-reported outcome measures (Oswestry Disability Index [ODI], 36-item Short Form health survey [SF-36]), QALY gained, and reoperation and readmission rates at 1 year. TETD and MD groups were compared for outcome measures.
Results:
A total of 111 patients (57 TETD, 54 MD) were included. The direct ($6,270 TETD vs. $7,410 MD, p < 0.01), indirect costs ($1,250 TETD vs. $1,450 MD, p < 0.01), total costs ($7,520 TETD vs. $8,860 MD, p < 0.01), and cost per QALY ($31,333 TETD vs. $44,300 MD, p < 0.01) were significantly lower for TETD compared to MD. ICER of TETD was found to be -$33,500. At 1 year, TETD group showed significantly greater improvement in ODI (46% vs. 36%, p < 0.01) and SF-36 (64% vs. 53%, p < 0.01) and significantly greater QALY gained (0.24 vs. 0.2, p < 0.01) compared to MD group. No significant difference was found in reoperation and readmission rates.
Conclusion
TETD demonstrated significantly better clinical outcomes, lower overall costs, and better cost-effectiveness than MD in appropriately selected patients of symptomatic TDH.
8.Environmental disease monitoring by regional Environmental Health Centers in Korea: a narrative review
Myung-Sook PARK ; Hwan-Cheol KIM ; Woo Jin KIM ; Yun-Chul HONG ; Won-Jun CHOI ; Seock-Yeon HWANG ; Jiho LEE ; Young-Seoub HONG ; Yong-Dae KIM ; Seong-Chul HONG ; Joo Hyun SUNG ; Inchul JEONG ; Kwan LEE ; Won-Ju PARK ; Hyun-Joo BAE ; Seong-Yong YOON ; Cheolmin LEE ; Kyoung Sook JEONG ; Sanghyuk BAE ; Jinhee CHOI ; Ho-Hyun KIM
The Ewha Medical Journal 2025;48(1):e3-
This study explores the development, roles, and key initiatives of the Regional Environmental Health Centers in Korea, detailing their evolution through four distinct phases and their impact on environmental health policy and local governance. It chronicles the establishment and transformation of these centers from their inception in May 2007, through four developmental stages. Originally named Environmental Disease Research Centers, they were subsequently renamed Environmental Health Centers following legislative changes. The analysis includes the expansion in the number of centers, the transfer of responsibilities to local governments, and the launch of significant projects such as the Korean Children’s Environmental Health Study (Ko-CHENS ). During the initial phase (May 2007–February 2009), the 10 centers concentrated on research-driven activities, shifting from a media-centered to a receptor-centered approach. In the second phase, prompted by the enactment of the Environmental Health Act, six additional centers were established, broadening their scope to address national environmental health issues. The third phase introduced Ko-CHENS, a 20-year national cohort project designed to influence environmental health policy by integrating research findings into policy frameworks. The fourth phase marked a decentralization of authority, empowering local governments and redefining the centers' roles to focus on regional environmental health challenges. The Regional Environmental Health Centers have significantly evolved and now play a crucial role in addressing local environmental health issues and supporting local government policies. Their capacity to adapt and respond to region-specific challenges is essential for the effective implementation of environmental health policies, reflecting geographical, socioeconomic, and demographic differences.
9.The characteristics of Korean elderly multiple myeloma patients aged 80 years or over
Sang Hwan LEE ; Hee-Jeong CHO ; Joon Ho MOON ; Ji Yoon JUNG ; Min Kyoung KIM ; Mi Hwa HEO ; Young Rok DO ; Yunhwi HWANG ; Sung Hwa BAE
The Korean Journal of Internal Medicine 2025;40(1):115-123
Background/Aims:
Multiple myeloma (MM) predominantly affects elderly individuals, but studies on older patients with MM are limited. The clinical characteristics and survival outcomes of patients with MM aged 80 years or over were retrospectively analyzed.
Methods:
This retrospective multicenter study was conducted to investigate the clinical characteristics, treatment patterns, and survival outcomes of patients aged 80 years or over who were newly diagnosed with MM at five academic hospitals in Daegu, Korea, between 2010 and 2019.
Results:
A total of 127 patients with a median age of 83 years (range, 80–93 yr) were enrolled: 52 (40.9%) with Eastern Cooperative Oncology Group Performance Status (ECOG PS) > 2, 84 (66.1%) with International Staging System (ISS) stage III disease, and 93 (73.2%) with a Charlson comorbidity index (CCI) > 4. Chemotherapy was administered to 86 patients (67.7%). The median overall survival was 9.3 months. Overall survival was significantly associated with ECOG PS > 2 (HR 2.26, 95% CI 1.43–3.59), ISS stage III (HR 1.99, 95% CI 1.18–3.34), and chemotherapy (HR 0.34, 95% CI 0.21–0.55). There was no statistically significant difference in event-free survival according to the type of anti-myeloma chemotherapy administered. The early mortality (EM) rate was 28.3%.
Conclusions
Even in patients with MM aged 80 years or over, chemotherapy can result in better survival outcomes than supportive care. Patients aged ≥ 80 years should not be excluded from chemotherapy based on age alone. However, reducing EM in elderly patients with newly diagnosed MM remains challenging.
10.Initial and peak serum levels of Krebs von den Lungen-6 for predicting the prognosis of patients with COVID-19
Geonui KIM ; Hyeonwoo KWON ; Sang Hyun RA ; Euijin CHANG ; Seongman BAE ; Jiwon JUNG ; Min Jae KIM ; Yong Pil CHONG ; Sang-Oh LEE ; Sang-Ho CHOI ; Yang Soo KIM ; Sung-Han KIM
The Korean Journal of Internal Medicine 2025;40(2):321-329
Background/Aims:
Krebs von den Lungen-6 (KL-6) is associated with prognosis in patients with COVID-19. However, there is limited data on the correlation between the prognosis of COVID-19 and varying KL-6 levels at different time points. We investigated the optimal cutoff values of the initial and peak serum KL-6 levels to predict mortality and evaluated their correlation with mortality.
Methods:
This retrospective cohort study collected data on serially collected serum KL-6 levels in patients hospitalized with COVID-19 between October 2020 and January 2022 at a single tertiary hospital in South Korea. The area under the receiver operating characteristic curve and Youden index were used to determine the cutoff points for the initial and peak KL-6 levels that best predicted 30-day mortality. The association between the initial and peak KL-6 values was assessed by univariate and multivariate logistic regression models.
Results:
A total of 349 patients were included in this study. The mean initial and peak KL-6 levels were significantly higher in the non-survivor group than in the survivor group. The initial and peak KL-6 values that best predicted 30-day mortality were 491.85 U/mL and 660.05 U/mL, respectively. An initial KL-6 level greater than 491.85 U/mL and a peak KL-6 level greater than 660.05 U/mL were significantly associated with 30-day mortality.
Conclusions
The initial and peak levels of KL-6 were significantly associated with 30-day mortality in hospitalized patients with COVID-19. These findings suggest that serially monitoring blood KL-6 levels could be a valuable prognostic indicator for COVID-19.

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