1.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
2.Actinobacillus pleuropneumoniaein Korea (2015-2025): serovar distribution, toxin gene profiles, antimicrobial resistance, and identification of an apxIICA-deficient serovar 15 profile
Da-Yun BAE ; Eun Ju KANG ; Yun-Chae CHO ; Yujoon LIM ; Sung-Hyun MOON ; Won-Il KIM ; Yeonsu OH ; Ho-Seong CHO
Journal of Veterinary Science 2026;27(3):e39-
Objective:
To provide a decade-long molecular and phenotypic characterization of APP isolates from Korean pig farms, focusing on the serovar distribution, apx-based toxingene profiles, and antimicrobial susceptibility.
Methods:
Between 2015 and 2025, 1,215 pneumonic lung samples from 965 pig farms yielded 132 APP isolates. The species identity was confirmed by 16S rRNA sequencing. The serovars were determined using capsule polysaccharide (CPS) gene-based multiplex polymerase chain reaction (PCR). Toxin genes (apxIA–apxIVA) were profiled, and the antimicrobial susceptibility to 29 agents was assessed by broth microdilution according to the Clinical and Laboratory Standards Institute guidelines.
Results:
Serovar 1 was predominant (66.7%), followed by serovars 5 (17.4%) and 2 (6.8%).CPS multiplex PCR identified three isolates (2.3%) as serovar 15, which displayed heterogeneous toxin gene profiles, including apxIICA-deficient profiles. Most isolates exhibited classical repeats-in-toxin operon arrangements, suggesting ongoing diversification of toxin gene profiles. High resistance rates were observed for oxytetracycline (90.9%) and florfenicol (50.8%), and recurrent multidrug-resistant combinations were frequently detected.
Conclusions
and Relevance: Serovar 1 is dominant in Korea, but the emergence of atypical toxin gene profiles in serovar 15 may carry immunological implications. Persistent resistance to older drug classes underscores the necessity for long-term molecular surveillance, evaluation of vaccine coverage against evolving strains, and enhanced antimicrobial stewardship to strengthen the control efforts for porcine pleuropneumonia in Korea.
4.Speech Perception and Mapping Characteristics of Cochlear Implant Patients With Autism Spectrum Disorder: Comparative Results After 10 Years of Use
Gi Jung IM ; Pyung Gon THAK ; Jae Hyung PARK ; Bong Il PARK ; Jiwon CHANG ; Euyhyun PARK ; Sung Won CHAE ; Hak Hyun JUNG
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(4):152-158
Background and Objectives:
This study aimed to analyze postoperative performance and mapping characteristics of cochlear implants (CIs) by comparing patients with autism spectrum disorder (ASD) to those without ASD, and to suggest CI mapping solutions in patients with ASD.Subjects and Method This retrospective study enrolled 10 children with ASD and hearing disabilities, who received simultaneous bilateral CI (ASD group), and 20 children with bilateral hearing disabilities, who received simultaneous bilateral CI at the same age (control group). CI performance was analyzed using speech perception tests (categorical auditory performance score and monosyllable, bisyllable, and Ling’s 6 tests) and a sound field test. The mapping characteristics focused on variables related to stimulus intensity and fine-tuning.
Results:
The performance of the ASD group was significantly poorer than that of the control group in all speech perception and sound field tests. At the comfortable (C) and threshold (T) levels, the ASD group scored significantly lower than the control group. The dynamic range of ASD group was significantly narrower than the control group. The ASD group had significantly lower pulse width, sensitivity, and volume than control group.
Conclusion
CI mapping in the ASD group showed practical limitations. To avoid overstimulation in patients with ASD, the dynamic range should be set narrow, or the C/T level should be set lower than normal. Key control factors, such as pulse width, sensitivity, and volume, should be set lower than the control group. Although lower performance from CI is generally expected in the ASD group, CI mapping in the ASD group requires a long-term approach with dedicated efforts and patience.
5.Complete or incomplete revascularization in patients with left main culprit lesion acute myocardial infarction with multivessel disease: a retrospective observational study
Sun Oh KIM ; Hong-Ju KIM ; Jong-Il PARK ; Kang-Un CHOI ; Jong-Ho NAM ; Chan-Hee LEE ; Jang-Won SON ; Jong-Seon PARK ; Sung-Ho HER ; Ki-Yuk CHANG ; Tae-Hoon AHN ; Myung-Ho JEONG ; Seung-Woon RHA ; Hyo-Soo KIM ; Hyeon-Cheol GWON ; In-Whan SEONG ; Kyung-Kuk HWANG ; Seung-Ho HUR ; Kwang-Soo CHA ; Seok-Kyu OH ; Jei-Keon CHAE ; Ung KIM
Journal of Yeungnam Medical Science 2025;42(1):18-
Background:
Complete revascularization has demonstrated better outcomes in patients with acute myocardial infarction (AMI) and multivessel disease. However, in the case of left main (LM) culprit lesion AMI with multivessel disease, there is limited evidence to suggest that complete revascularization is better.
Methods:
We reviewed 16,831 patients in the Korea Acute Myocardial Infarction Registry who were treated from July 2016 to June 2020, and 399 patients were enrolled with LM culprit lesion AMI treated with percutaneous coronary intervention. We categorized the patients as those treated with complete revascularization (n=295) or incomplete revascularization (n=104). The study endpoint was major adverse cardiac and cerebrovascular events (MACCE), a composite of all-cause death, myocardial infarction, ischemia-driven revascularization, stent thrombosis, and stroke. We performed propensity score matching (PSM) and analyzed the incidence of MACCE at 1 year.
Results:
After PSM, the two groups were well balanced. There was no significant difference between the two groups in MACCE at 1 year (12.1% vs. 15.2%; hazard ratio, 1.28; 95% confidence interval, 0.60–2.74; p=0.524) after PSM. The components of MACCE and major bleeding were also not significantly different.
Conclusion
There was no significant difference in clinical outcomes between the groups treated with complete or incomplete revascularization for LM culprit lesion AMI with multivessel disease.
6.Speech Perception and Mapping Characteristics of Cochlear Implant Patients With Autism Spectrum Disorder: Comparative Results After 10 Years of Use
Gi Jung IM ; Pyung Gon THAK ; Jae Hyung PARK ; Bong Il PARK ; Jiwon CHANG ; Euyhyun PARK ; Sung Won CHAE ; Hak Hyun JUNG
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(4):152-158
Background and Objectives:
This study aimed to analyze postoperative performance and mapping characteristics of cochlear implants (CIs) by comparing patients with autism spectrum disorder (ASD) to those without ASD, and to suggest CI mapping solutions in patients with ASD.Subjects and Method This retrospective study enrolled 10 children with ASD and hearing disabilities, who received simultaneous bilateral CI (ASD group), and 20 children with bilateral hearing disabilities, who received simultaneous bilateral CI at the same age (control group). CI performance was analyzed using speech perception tests (categorical auditory performance score and monosyllable, bisyllable, and Ling’s 6 tests) and a sound field test. The mapping characteristics focused on variables related to stimulus intensity and fine-tuning.
Results:
The performance of the ASD group was significantly poorer than that of the control group in all speech perception and sound field tests. At the comfortable (C) and threshold (T) levels, the ASD group scored significantly lower than the control group. The dynamic range of ASD group was significantly narrower than the control group. The ASD group had significantly lower pulse width, sensitivity, and volume than control group.
Conclusion
CI mapping in the ASD group showed practical limitations. To avoid overstimulation in patients with ASD, the dynamic range should be set narrow, or the C/T level should be set lower than normal. Key control factors, such as pulse width, sensitivity, and volume, should be set lower than the control group. Although lower performance from CI is generally expected in the ASD group, CI mapping in the ASD group requires a long-term approach with dedicated efforts and patience.
7.Complete or incomplete revascularization in patients with left main culprit lesion acute myocardial infarction with multivessel disease: a retrospective observational study
Sun Oh KIM ; Hong-Ju KIM ; Jong-Il PARK ; Kang-Un CHOI ; Jong-Ho NAM ; Chan-Hee LEE ; Jang-Won SON ; Jong-Seon PARK ; Sung-Ho HER ; Ki-Yuk CHANG ; Tae-Hoon AHN ; Myung-Ho JEONG ; Seung-Woon RHA ; Hyo-Soo KIM ; Hyeon-Cheol GWON ; In-Whan SEONG ; Kyung-Kuk HWANG ; Seung-Ho HUR ; Kwang-Soo CHA ; Seok-Kyu OH ; Jei-Keon CHAE ; Ung KIM
Journal of Yeungnam Medical Science 2025;42(1):18-
Background:
Complete revascularization has demonstrated better outcomes in patients with acute myocardial infarction (AMI) and multivessel disease. However, in the case of left main (LM) culprit lesion AMI with multivessel disease, there is limited evidence to suggest that complete revascularization is better.
Methods:
We reviewed 16,831 patients in the Korea Acute Myocardial Infarction Registry who were treated from July 2016 to June 2020, and 399 patients were enrolled with LM culprit lesion AMI treated with percutaneous coronary intervention. We categorized the patients as those treated with complete revascularization (n=295) or incomplete revascularization (n=104). The study endpoint was major adverse cardiac and cerebrovascular events (MACCE), a composite of all-cause death, myocardial infarction, ischemia-driven revascularization, stent thrombosis, and stroke. We performed propensity score matching (PSM) and analyzed the incidence of MACCE at 1 year.
Results:
After PSM, the two groups were well balanced. There was no significant difference between the two groups in MACCE at 1 year (12.1% vs. 15.2%; hazard ratio, 1.28; 95% confidence interval, 0.60–2.74; p=0.524) after PSM. The components of MACCE and major bleeding were also not significantly different.
Conclusion
There was no significant difference in clinical outcomes between the groups treated with complete or incomplete revascularization for LM culprit lesion AMI with multivessel disease.
8.Speech Perception and Mapping Characteristics of Cochlear Implant Patients With Autism Spectrum Disorder: Comparative Results After 10 Years of Use
Gi Jung IM ; Pyung Gon THAK ; Jae Hyung PARK ; Bong Il PARK ; Jiwon CHANG ; Euyhyun PARK ; Sung Won CHAE ; Hak Hyun JUNG
Korean Journal of Otolaryngology - Head and Neck Surgery 2025;68(4):152-158
Background and Objectives:
This study aimed to analyze postoperative performance and mapping characteristics of cochlear implants (CIs) by comparing patients with autism spectrum disorder (ASD) to those without ASD, and to suggest CI mapping solutions in patients with ASD.Subjects and Method This retrospective study enrolled 10 children with ASD and hearing disabilities, who received simultaneous bilateral CI (ASD group), and 20 children with bilateral hearing disabilities, who received simultaneous bilateral CI at the same age (control group). CI performance was analyzed using speech perception tests (categorical auditory performance score and monosyllable, bisyllable, and Ling’s 6 tests) and a sound field test. The mapping characteristics focused on variables related to stimulus intensity and fine-tuning.
Results:
The performance of the ASD group was significantly poorer than that of the control group in all speech perception and sound field tests. At the comfortable (C) and threshold (T) levels, the ASD group scored significantly lower than the control group. The dynamic range of ASD group was significantly narrower than the control group. The ASD group had significantly lower pulse width, sensitivity, and volume than control group.
Conclusion
CI mapping in the ASD group showed practical limitations. To avoid overstimulation in patients with ASD, the dynamic range should be set narrow, or the C/T level should be set lower than normal. Key control factors, such as pulse width, sensitivity, and volume, should be set lower than the control group. Although lower performance from CI is generally expected in the ASD group, CI mapping in the ASD group requires a long-term approach with dedicated efforts and patience.
9.Cynaropicrin Induces Reactive Oxygen Species-Dependent Paraptosis-Like Cell Death in Human Liver Cancer Cells
Min Yeong KIM ; Hee-Jae CHA ; Su Hyun HONG ; Sung-Kwon MOON ; Taeg Kyu KWON ; Young-Chae CHANG ; Gi Young KIM ; Jin Won HYUN ; A-Young NAM ; Jung-Hyun SHIM ; Yung Hyun CHOI
Biomolecules & Therapeutics 2025;33(3):470-482
Cynaropicrin, a sesquiterpene lactone found in artichoke leaves exerts diverse pharmacological effects. This study investigated whether cynaropicrin has a paraptosis-like cell death effect in human hepatocellular carcinoma Hep3B cells in addition to the apoptotic effects reported in several cancer cell lines. Cynaropicrin-induced cytotoxicity and cytoplasmic vacuolation, a key characteristic of paraptosis, were not ameliorated by inhibitors of necroptosis, autophagy, or pan caspase inhibitors in Hep3B cells. Our study showed that cynaropicrin-induced cytotoxicity was accompanied by mitochondrial dysfunction and endoplasmic reticulum stress along with increased cellular calcium ion levels. These effects were significantly mitigated by endoplasmic reticulum stress inhibitor or protein synthesis inhibitor. Moreover, cynaropicrin treatment in Hep3B cells increased reactive oxygen species generation and downregulated apoptosis-linked gene 2-interacting protein X (Alix), a protein that inhibits paraptosis. The addition of the reactive oxygen species scavenger N-acetyl-L-cysteine (NAC) neutralized cynaropicrin-induced changes in Alix expression and endoplasmic reticulum stress marker proteins counteracting endoplasmic reticulum stress and mitochondrial impairment. This demonstrates a close relationship between endoplasmic reticulum stress and reactive oxygen species generation. Additionally, cynaropicrin activated p38 mitogen activated protein kinase and a selective p38 mitogen activated protein kinase blocker alleviated the biological phenomena induced by cynaropicrin. NAC pretreatment showed the best reversal of cynaropicrin induced vacuolation and cellular inactivity. Our findings suggest that cynaropicrin induced oxidative stress in Hep3B cells contributes to paraptotic events including endoplasmic reticulum stress and mitochondrial damage.
10.Erratum: Korean Gastric Cancer Association-Led Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ;
Journal of Gastric Cancer 2025;25(2):400-402

Result Analysis
Print
Save
E-mail