1.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
2.Comparative perioperative outcomes of single-port laparoscopic ArtiSential versus da Vinci SP platform for totally extraperitoneal inguinal hernia repair:a multi-institutional, propensity score-matched analysis in Korea
In Kyeong KIM ; Moonjin KIM ; Ji-Yeon MOON ; Ri Na YOO ; Jumyeong SONG ; Chaedong LIM ; Choon Sik CHUNG ; Gwan Cheol LEE ; Tae Gyu KIM ; Young Sun CHOI ; Dong Geun LEE ; Chul Seung LEE
Journal of Minimally Invasive Surgery 2026;29(1):3-10
Purpose:
This study aimed to compare perioperative and postoperative outcomes of single-port laparoscopic articulated instrument-assisted versus da Vinci SP-assisted totally extraperitoneal (TEP) inguinal hernia repair using a propensity score-matched multi-institutional cohort.
Methods:
Between April 2022 and July 2025, 221 patients underwent TEP unilateral inguinal hernia repair at four institutions. Among them, 33 patients underwent da Vinci SP-assisted repair (Intuitive Surgical) and 188 underwent single-port laparoscopy using the articulated instrument, ArtiSential (LivsMed). Propensity score matching was performed in a 1:1 ratio based on demographic and clinical variables, resulting in 30 matched patients in each group. Perioperative outcomes and postoperative complications were analyzed.
Results:
After matching, baseline characteristics were well balanced between the groups.Operative time was significantly longer in the da Vinci SP group than in the ArtiSential group (median [interquartile range], 82.0 [67.5–105.0] vs. 35.0 [28.5–47.5] minutes; p < 0.001). No open conversions occurred, and conversions to transabdominal preperitoneal repair were rare and comparable. Mesh size selection differed significantly, with smaller meshes more frequently used in the da Vinci SP group (p < 0.001). Postoperative outcomes, including length of hospital stay, overall complication rates, chronic pain, and recurrence, were similar between the groups. No major complications, readmissions, or reoperations were observed.
Conclusion
Articulated instrument-assisted TEP inguinal hernia repair demonstrated a significantly shorter operative time than da Vinci SP-assisted repair, while perioperative safety and postoperative outcomes were comparable.
3.Clinical Importance of Autoantibodies to SOX10 and Lamin A/C as Potential Biomarkers in Sera From Vitiligo Patients
Jung-Hwan KIM ; Hyun Jeong JU ; Dong-Wha YOO ; Jung Min BAE ; Sanghoon LEE ; Seung-Chul LEE ; Ki-Ho KIM
Annals of Dermatology 2026;38(3):220-225
Background:
The discovery and evaluation of reliable biomarkers of vitiligo are important;however, no clinically established serological markers exist for predicting the clinical prognosis of vitiligo.
Objective:
To investigate the levels of SOX10 and lamin A/C antibodies in the serum of patients diagnosed with vitiligo.
Methods:
In this multicenter prospective study, blood serum samples were collected from adult vitiligo patients. The levels of SOX10 and lamin A/C antibodies were analyzed by direct sandwich enzyme-linked immunosorbent assay. Antibody levels between the groups were compared according to disease activity and subtype.
Results:
A total of 80 patients (46 females; median age 60 years) were enrolled, including 56 (70%) with nonsegmental vitiligo and 27 (33.7%) with active disease. Positivity for SOX10 and lamin A/C antibodies was observed in 35.0% and 71.3% of patients, respectively. SOX10 positivity was significantly higher in active vitiligo than in stable vitiligo (59.3% vs. 24.5%; p=0.003), whereas lamin A/C positivity did not show significant difference (77.8% vs. 69.8%; p=0.60).No significant associations were found between SOX10 or lamin A/C status and the subtype, extent, or the presence of antinuclear antibody, anti-thyroid peroxidase, or anti-thyroglobulin (all p>0.05).
Conclusion
SOX10 antibody could be a potential marker for assessing disease activity in vitiligo. The increased production of SOX10 antibodies in the serum may be due to the underlying death or turnover of SOX10 containing cells under active autoimmune response.
4.Impact of obesity on renal function in elderly Korean adults: a national population-based cohort study
Jihyun YANG ; Hui Seung LEE ; Chi-Yeon LIM ; Hyunsuk KIM ; Sungjin CHUNG ; Soon Hyo KWON ; Jang-Hee CHO ; Kyung Don YOO ; Woo Yeong PARK ; In O SUN ; Byung Chul YU ; Gang-Jee KO ; Jae Won YANG ; Won Min HWANG ; Sang Heon SONG ; Sung Joon SHIN ; Yu Ah HONG ; Eunjin BAE ; Young Youl HYUN
Kidney Research and Clinical Practice 2026;45(1):65-76
Background:
Obesity is a well-known risk factor for chronic kidney disease and its progression. However, the impact of obesity on the renal function of the elderly population is uncertain. We investigated the association between obesity and renal outcomes in the elderly.
Methods:
We analyzed 130,504 participants from the Korean National Health Insurance Service-Senior cohort. Obesity was classified according to body mass index (BMI), sex-specific waist circumference (WC), and the presence of metabolic syndrome. The primary outcome was renal function decline, defined as a decline in the estimated glomerular filtration rate (eGFR) of at least 50% from baseline or new-onset end-stage renal disease.
Results:
During a follow-up period of 559,531.1 person-years (median, 4.3 years), 2,486 participants (19.0%; incidence rate of 4.44 per 1,000 person-years) showed renal function decline. A multivariate Cox proportional hazards model revealed that BMI/WC was not associated with renal function decline. However, the group with metabolic syndrome had a significantly increased risk of renal function decline compared to the group without metabolic syndrome (adjusted hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.13–1.36). Compared with the non-metabolic syndrome group, the adjusted HRs (95% CI) for participants with one through five components were 0.96 (0.84–1.11), 1.10 (0.96–1.27), 1.24 (1.06–1.45), 1.37 (1.12–1.66), and 1.99 (1.42–2.79), respectively (p for trend < 0.001).
Conclusion
In elderly Korean adults, metabolic syndrome and the number of its components were associated with a higher risk of renal function decline, but BMI or WC was not significant.
5.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
6.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
7.Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Soo-Hyun KIM ; Yunjung CHOI ; Eun Kyoung OH ; Ichizo NISHINO ; Shigeaki SUZUKI ; Bum Chun SUH ; Ha Young SHIN ; Seung Woo KIM ; Byeol-A YOON ; Seong-il OH ; Yoo Hwan KIM ; Hyunjin KIM ; Young-Min LIM ; Seol-Hee BAEK ; Je-Young SHIN ; Hung Youl SEOK ; Seung-Ah LEE ; Young-Chul CHOI ; Hyung Jun PARK
Journal of Clinical Neurology 2025;21(1):31-39
Background:
and Purpose This study evaluated the diagnostic utility of an anti-signal-recognition particle 54 (anti-SRP54) antibody-based enzyme-linked immunosorbent assay (ELISA) as well as the clinical, serological, and pathological characteristics of patients with SRP immune-mediated necrotizing myopathy (IMNM).
Methods:
We evaluated 87 patients with idiopathic inflammatory myopathy and 107 healthy participants between January 2002 and December 2023. The sensitivity and specificity of the ELISA for anti-SRP54 antibodies were assessed, and the clinical profiles of patients with antiSRP54 antibodies were determined.
Results:
The ELISA for anti-SRP54 antibodies had a sensitivity and specificity of 88% and 99%, respectively, along with a test–retest reliability of 0.92 (p<0.001). The 32 patients diagnosed with anti-SRP IMNM using a line-blot immunoassay included 28 (88%) who tested positive for anti-SRP54 antibodies using the ELISA, comprising 12 (43%) males and 16 (57%) females whose median ages at symptom onset and diagnosis were 43.0 years and 43.5 years, respectively. Symptoms included proximal muscle weakness in all 28 (100%) patients, neck weakness in 9 (32%), myalgia in 15 (54%), dysphagia in 5 (18%), dyspnea in 4 (14%), dysarthria in 2 (7%), interstitial lung disease in 2 (7%), and myocarditis in 2 (7%). The median serum creatine kinase (CK) level was 7,261 U/L (interquartile range: 5,086–10,007 U/L), and the median anti-SRP54 antibody level was 2.0 U/mL (interquartile range: 1.0–5.6 U/mL). The serum CK level was significantly higher in patients with coexisting anti-Ro-52 antibodies.
Conclusions
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
8.Human dermal allograft patch cushioning augmentation in large rotator cuff repair
Eugene BAEK ; Eugene BAEK ; Hyun Gon KIM ; Hyun Gon KIM ; Jong Hyun LEE ; Jong Hyun LEE ; Seung Jin YOO ; Seung Jin YOO ; Je Hyeong JO ; Je Hyeong JO ; Su Cheol KIM ; Su Cheol KIM ; Jae Chul YOO ; Jae Chul YOO
Clinics in Shoulder and Elbow 2025;28(4):489-494
In large posterosuperior rotator cuff tears, retear is more likely due to factors such as poor tendon quality, tendon loss, incomplete footprint coverage, and incomplete repair. To reduce the retear rate and promote healing, various strategies have been explored, including augmentation using a human acellular dermal matrix (HADM) allograft patch. However, the traditional patch augmentation with a suture-bridge configuration is complicated and time consuming. Another method to alleviate impingement between the repaired tendon and acromion, similar to the ballooning effect in the subacromial space, is the acromiograft technique. However, a thin acromion may lead to fractures, and such a graft is less likely to incorporate with the repaired tendon. To address these concerns, we developed a new technique that enhances healing through direct contact with the repaired tendon, alleviates impingement with a spacer effect, and simplifies the procedure while ensuring adequate medial coverage including the musculotendinous junction. This article describes our “patch cushioning technique” using an HADM allograft. The present report provides a purely technical description of the procedure.
9.Prediction model for 6-month mortality in incident older hemodialysis patients in South Korea
Woo Yeong PARK ; Eunjin BAE ; Hui-Seung LEE ; Chi-Yeon LIM ; Jang-Hee CHO ; Byung Chul YU ; Miyeun HAN ; Sang Heon SONG ; Gang-Jee KO ; Jae Won YANG ; Sungjin CHUNG ; Yu Ah HONG ; Young Youl HYUN ; In O SUN ; Hyunsuk KIM ; Won Min HWANG ; Sung Joon SHIN ; Soon Hyo KWON ; Kyung Don YOO ;
Kidney Research and Clinical Practice 2025;44(4):664-678
Early mortality following hemodialysis initiation hinders survival improvement in older patients. This study aimed to develop a clinical risk model for predicting 6-month mortality after dialysis initiation in older Korean hemodialysis patients. Methods: We analyzed data from incident hemodialysis patients aged >70 years from the Korean Society of Geriatric Nephrology (KSGN) database. A prediction model was developed using multivariate logistic regression analysis and externally validated with independent datasets. Results: Among 1,751 incident hemodialysis patients, the 6-month mortality rate was 15.5%. Using multivariate logistic analysis, we constructed the KSGN score as an independent risk factor for 6-month mortality, and its components and score are as follows: old age at dialysis initiation (≥85 years, score 2); hypertension and renovascular disease as a primary etiology of end-stage kidney disease (ESKD) (score 1); malignancy history (yes, score 1); low serum albumin (<3.5 g/dL, score 1); hypertension treatment (yes, score –1); prepared vascular access on maintenance dialysis (arteriovenous fistula/arteriovenous graft, score –3). In the development cohort, the area under the curve (AUC) for the KSGN score was significantly higher than the Alberta Wick’s score (0.707 vs. 0.683, p = 0.001). In the validation cohort, the KSGN score’s performance was comparable to existing models. Conclusion: The KSGN score may be a valuable tool for predicting early mortality after dialysis initiation in older patients with ESKD, aiding in decision-making and management regarding dialysis initiation.
10.Evaluation of advective solute infiltration into porous media by pulsed focused ultrasound-induced acoustic streaming effects
Jared VAN REET ; Kate TUNNELL ; Kara ANDERSON ; Hyun-Chul KIM ; Evgenii KIM ; Kavin KOWSARI ; Seung-Schik YOO
Ultrasonography 2024;43(1):35-46
Purpose:
Acoustic streaming induced by applying transcranial focused ultrasound (FUS) promotes localized advective solute transport in the brain and has recently garnered research interest for drug delivery and enhancement of brain waste clearance. The acoustic streaming behavior in brain tissue is difficult to model numerically and thus warrants an in vitro examination of the effects of using different sonication parameters, in terms of frequency, intensity, and pulse duration (PD).
Methods:
Melamine and polyvinyl alcohol (PVA) foams were used to mimic the porous brain tissue, which contains leptomeningeal fenestrations and perivascular space, while agar hydrogel was used to emulate denser neuropil. FUS was delivered to these media, which were immersed in a phosphate-buffered saline containing toluidine blue O dye, across various frequencies (400, 500, and 600 kHz; applicable to transcranial delivery) in a pulsed mode at two different spatialpeak pulse-average intensities (3 and 4 W/cm2).
Results:
Image analysis showed that the use of 400 kHz yielded the greatest dye infiltration in melamine foam, while sonication had no impact on infiltration in the agar hydrogel due to the dominance of diffusional transport. Using a fixed spatial-peak temporal-average intensity of 0.4 W/cm2 at 400 kHz, a PD of 75 ms resulted in the greatest infiltration depth in both melamine and PVA foams among the tested range (50-150 ms).
Conclusion
These findings suggest the existence of a specific frequency and PD that induce greater enhancement of solute/fluid movement, which may contribute to eventual in vivo applications in promoting waste clearance from the brain.

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